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Galactosemia is an inherited disorder that prevents a person from processing the sugar galactose, which is found in many foods. T... Cholesterol plays a vital role in the body's ability to function. ♦ Epimerase deficiency (Type 3): Another rare autosomal recessive disorder involving the enzyme epimerase, and without this enzyme, galactose can accumulate. ♦ Type 1 occurs in 1 out of every 30,000 to 60,000 babies.♦ Type 2 is less common, occurring in 1 out of every 100,000 babies.♦ The other two types of galactosemia are very rare.♦ This condition is more common among those of African and Irish descent. Physician-formulated supplements that deliver real, powerful results. Below is a list of diet resources that some parents follow, however, please always check with your own clinic for diet advice. Our subscription customers are always in the front of the line, so when our stock is low, your favorite products are prioritized for shipment, automatically. Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose. Galactosemia is a genetic disorder that occurs when the body has trouble processing galactose, a type of simple sugar. Here's a guide to how vitamin C benefits... Elderberry has been used for centuries to fight colds and infections. If not given a low-galactose diet right away, symptoms appear within days of birth. This signs and symptoms information for Classic galactosemia has been gathered from various sources, may not be fully accurate, and may not be the full list of Classic galactosemia signs or Classic galactosemia symptoms. Furthermore, 1MD.org makes no warranty or representation, expressed or implied, as to the accuracy or sufficiency of the information contributed by outside sources, and assumes no responsibility or liability regarding the use of such information. Patients with GALT deficiency … As there is no medication that can replace the lost enzymes, there is no cure for galactosemia. Diseases of the Liver Treatment requires the strict exclusion of lactose/galactose from the diet. ♦ Duarte variant galactosemia: This type is similar to classic galactosemia, except that patients with this type have a partial deficiency, whereas those with classic galactosemia have a complete deficiency. Fatigue is the medical term used for an overall feeling of low energy and tiredness. This can change as a respon... Malnutrition is a condition where your body is not getting enough nutrients. Normally when a person consumes a product that contains lactose, the body breaks the lactose down into galactose and glucose. Studies are ongoing to discover alternative treatments that can support health when used in conjunction with a low-galactose diet. A child will, therefore, inherit one defective gene from each parent. Lock in a bargain basement price for the health supplements you want, guaranteed. Policies Galactosemia is an inherited disorder in which the body is not able to appropriately metabolize sugar galactose resulting in various complications. Find out if you are at risk or if you should undergo any tests or vaccinations. Mutations in genes and a deficiency of certain enzymes are the reason you develop galactosemia. Without GALT, galactose and breakdown products of galactose, including galactose-1-p… 1) Galactosemia Diet Resources from University of Colorado Inheri… Duarte Galactosemia Diet This is the less severe type with less complications. It can be a sym... A loss of appetite can be caused by a wide variety of conditions. Video Library, SUPPORT GROUPS The most common symptoms include: loss of appetite vomiting jaundice, which is yellowing of the skin and other parts of the body liver enlargement liver damage fluid building up in the abdomen and swelling abnormal bleeding diarrhea irritability fatigue or … 21 Certain foods which are naturally lactose free are high in calcium and should be included in your daily diet. Galactosemia is a genetic disorder caused by the lack of three enzymes that processes galactose which is found in many foods and is produced when lactose is split by lactase into glucose and galactose. There are many variants of the disease but most affect one of three enzymes. We are your biggest health advocates, so let us help you stay on track by automatically sending your joint, heart, immunity, and digestive health support supplements all in one box, on time... and start enjoying a happier, healthier life today. Whether your liver is infected with a virus, injured by chemicals, or under attack from your own immune system, the basic danger is the same – that your liver will become so damaged that it can no longer work to keep you alive. With galactosemia, you have too much galactose in your blood, and this can cause serious health complications. Brochures Immediately discontinue use and consult your physician if you experience any adverse reaction to this product. Although many parents have never heard of galactose, it is actually a very common sugar, as together with glucose, it makes up lactose. Careers Galactosemia is caused by problems with the enzyme ‘galactose-1-phosphate uridyl transferase’ (GALT). Affected infants develop cataracts but otherwise experience few long-term complications. A low-galactose diet is the best treatment for galactosemia, which means milk and other dairy products cannot be consumed. Galactosemia is an inherited genetic disorder of metabolism where the body is unable to metabolize a sugar called galactose. *Offer based off MSRP on qualifying product. Galactosemia is one of the metabolic diseases that can be identified through Newborn Screening Evaluation. The views and opinions expressed by contributors and or product reviews are their own and not necessarily those of 1MD.org. Duarte galactosemia is an inherited condition associated with diminished ability to metabolize galactose due to a partial deficiency of the enzyme galactose-1-phosphate uridylyltransferase. Galactosemia. Unfortunately, clinics do not provide uniform direction to their parents and patients, the recommended diet for Classic Galactosemia is somewhat controversial. [3]Those who are homozygous for the Duarte variant still have enzyme levels that are about 50% of normal. In people with galactosemia, the GALT enzyme is either missing or not working properly. While your body can make vitamin D3 when exposed to sun, a clinically proven supplement can ensure y... Pelargonium Sidoides is an herbal extract widely known as an effective treatment option for the comm... Chromium is a trace mineral but has been shown to play an important role in the strength of your imm... Metabolism is the process in your body responsible for maintaining life. Galactosemia symptoms in adults are very similar to those in newborns when the condition is typically diagnosed. Since galactose is found in dairy products, these are to be avoided, and because galactosemia is a lifelong condition, dairy needs to be cut from the diet for life. Galactosemia is a rare genetic disorder which impacts the way your body processes the sugar galactose. Galactose also exists as part of another sugar, lactose, found in all dairy products. ♦ Liver damage or failure♦ Serious bacterial infections♦ Cataracts♦ Fine motor difficulties♦ Reproductive problems♦ Low bone mineral density ♦ Shock♦ Tremors♦ Sepsis (a life-threatening condition caused by infections). GALT deficiency is the most common abnormality. Products sold on 1MD.org are not intended to diagnose, treat, cure, or prevent any disease. This is require... With each heartbeat, your blood is pushed against your arteries. This faulty gene only emerges when two carriers have children together and pass it to their offspring. These products are not intended to diagnose, treat, cure, or prevent any disease. Galactosemia means too much galactose builds up in the blood. Is it possible to be connected to dietitian or someone whom can assist with meal planning? Seeds are the most nutrient-dense foods you can eat. Your body breaks down glucose for energy using the insulin produced by the pancreas. Without the genes or enzymes, galactose builds up in your blood. When treated successfully at this stage, there’s a chance your liver can heal itself. There are four main types of galactosemia disorders. Cirrhosis, liver cancer, and liver failure are serious conditions that can threaten your life. This liver enzyme is responsible for breaking down galactose (a sugar byproduct of lactose found in breast milk, cow’s milk and other dairy foods) into glucose. There is some disagreement over the need for dietary restriction in the treatment of children with Duarte galactosemia. Being proactive is the best approach to this disorder, and starting children on a low-galactose diet from birth will ensure they live a healthy life. There are several screening processes used to diagnose galactosemia. They’re sometimes a... A cloudy eye lens can significantly impair vision, which can affect quality of life. In the vast majority of cases, the GALT mutations in classic and clinic… sessionStorage.setItem("SelectedItem", this.value); Following a galactose-free diet is the only way to prevent symptoms and control the condition. Or Type III? Talk to your doctor about liver disease. We encourage families to gather as much information as they can, work with their clinic, so that they can make the best possible decision they can for their own child. Media Center The sooner the diet can be started, the lower the risk will be for learning deficiencies and behavioral problems. ALF Online Support Groups Take an important step in achieving your health goals by signing up for 1MD's Subscription Box today and receive your favorite products, while minimizing time and maximizing savings. Cirrhosis and hepatitis B are leading risk factors for primary liver cancer. If you are pregnant, nursing, taking medication, have a medical condition, or are under the age of 18, consult your physician before using this product. Adults with the condition may have short stature and suffer from tremors and/or ataxia. These compounds can treat cataracts, which are a common complication of galactosemia. Peripheral Vascular Disease is a circulatory system disorder that causes blood vessels to become nar... Probiotics help friendly gut flourish while keeping pathogenic bacteria in the intestines in check, ... NAC (N-Acetyl Cysteine) is a non-essential amino acid that your body needs to function properly, esp... Walnut health benefits include antioxidant effects from omega-3 fatty acids to help heart health. Comprehensive health guides of symptoms and disorders, helpful ingredients and recipes. Beef, poultry, eggs, beans, and legumes are all great. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Galactosemia is a rare, inherited disorder of carbohydrate metabolism that affects the body’s ability to convert galactose (a sugar contained in milk, including human mother’s milk) to glucose (a different type of sugar). A galactosemia test is usually done to determine whether a newborn has the disease. Polyphenols, which are powerful plant compounds, are being studied for possible treatment options. The main dietary source of galactose is lactose, the principle carbohydrate Blood tests detect the low levels of enzymes and high levels of galactose, urines tests can also be done to diagnose the condition, and genetic testing is able to diagnose the condition before a baby is born. There is controversy about certain aspects involving the detection, outcome, and management of galactosaemia.1 2The relative rarity of the disorder and lack of prospective studies have made it difficult for paediatricians to base their advice to parents and their management of patients on good clinical evidence. Galactosemia type II causes fewer medical problems than the classic type. A child with Duarte galactosemia inherits a gene for classic galactosemia from one parent and a Duarte variant gene from the other parent. Friedrich Goppert, a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956. Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactose is a sugar that may be found on its own in food, but it is usually found as part of another sugar called lactose. It protects your eyes and benefits your... OptiLut contains lutein and zeaxanthin, which protects the eyes from the damaging effects of environ... Tocopherols, or vitamin E, are antioxidants and the primary source of vitamin E. The not only benefi... Carotenes help prevent oxidative damage to cells and tissues. Most fruits, vegetables, and grains are also allowed on this restricted diet. Galactosemia was the second diso Type II? The gene defect for Galactosemia is a recessive genetic trait. ALL RIGHTS RESERVED. Genetic testing can be done during pregnancy and before determining if a parent carries the recessive gene. }); HELPLINE 1-800-465-4837 A person with galactosemia will never be able to properly digest foods containing galactose. Galactosemia is a rare genetic disorder which impacts the way your body processes the sugar galactose. In a family with a member who has galactosemia, a genetic test can be done on adults to find out whether they have an increased chance of having a child with the disease. Furthermore, signs and symptoms of Classic galactosemia may vary on an individual basis for each patient. Galactose forms half of the sugar lactose, which is found in milk. Galactosemia is an autosomal recessive hereditary disorder caused by a deficiency of the enzyme galactose-1- phosphate uridyl transferase (GALT) that is needed for the breakdown of the milk sugar, galactose. The real 1MD customers featured in our videos were compensated for their time. Parents that know they carry the gene are advised to get tested before having a baby, to determine the likelihood of passing the gene onto their child. In classic galactosemia and clinical variant galactosemia, GALT enzymatic activity is absent or very low. An infant diagnosed with galactosemia will simply be changed to a formula that does not contain galactose. It is important to speak with your doctor and a nutritionist to make sure you get the foods you need to maintain adequate vitamin and mineral consumption. Along with calcium supplements, vitamins C, D, and K, are also recommended. Help us improve this website. Medical Advisory Committee Diagnosis for both classic and Duarte galactosemia is made usually within the first week of life by blood test from a heel prick as part of a standard newborn screening. The study, called ACTION-Galactosemia, will investigate safety and pharmacokinetics (PK) of AT-007, a central nervous system (CNS) penetrant Aldose Reductase Inhibitor in healthy volunteers, and will then explore safety, PK and biomarker effects in adult subjects with Galactosemia. For the most part, it's a part of lactose, a more common sugar found in many baby formulas and all dairy products. Some children can still develop learning disabilities, speech troubles and delays, and reproductive issues. Many foods have small amounts of galactose. Type I? If untreated, as many as 75% of infants with galactosemia will die. if(selectedItem) { Galactosemia usually causes no symptoms at birth, but jaundice, diarrhea, and vomiting soon develop and the baby fails to gain weight. D. Vats, S. Packman, in Encyclopedia of the Neurological Sciences (Second Edition), 2014. If galactosemia is left untreated, multiple complications can develop because the buildup of this sugar in the blood is very dangerous. This enzyme’s job is to change galactose into glucose. Eye floaters are dots in your field of vision, and they’re usually harmless. Galactose is a sugar found in dairy products such as milk, cheese, and yogurt, and when it combines with the sugar glucose, it makes lactose. Do all my symptoms correspond with galactosemia or is it possible to have other kinds of GI or liver related problems. The statements on this site have not been evaluated by the FDA. The disease can be variable in terms of severity with a Duarte variant that is comparatively benign. Most parents have heard of lactose, the sugar found in breast milk, cow's milk and other forms of animal milk. Diagnosing Liver Disease – Liver Biopsy and Liver Function Tests, Glycogen Storage Disease Type 1 (von Gierke), Intrahepatic Cholestasis of Pregnancy (ICP), Progressive Familial Intrahepatic Cholestasis (PFIC), Spread the Word/Become an ALF Social Media Advocate, An increased frequency of Galactosemia occurs in individuals of. Classic galactosemia (type 1) - the most common and severe type, caused by … The information provided in content sections, customer reviews and testimonials is intended for educational purposes only. Select your preferred subscription delivery frequency and relax, knowing you'll never run out of your favorite products. Most causes of discolored urine are harmless, but others are more serious. If you are treated successfully at these stages, your liver may have a chance to heal itself and recover. The best diet for those diagnosed with galactosemia is a low-galactose diet restricted mostly to foods containing protein. Contact Us, READ, WATCH, LISTEN Adults 800 8 Pregnancy 1200 12 Lactation 1200 12 . Once you have reached these stages of liver disease, your treatment options may be very limited. Galactosemia is a rare genetic disorder which impacts the way your body processes the sugar galactose. People with galactosemia are missing the liver enzyme that changes galactose into glucose for energy in the body. With care and continuing medical advances, most children with galactosemia can now live normal lives. This rare and inherited disorder does not have a cure, and there are serious health complications associated with it. Which type of Galactosemia do I have? The patient with classic galactosemia carries deleterious mutations in both copies of their GALT gene so that their blood shows essentially no detectable residual GALT activity. These statements have not been evaluated by the Food and Drug Administration. Insulin resistance is w... Leg pain can occur for a number of reasons, and it can range from mild to severe. If both parents are carriers, then the chances of the child getting the disorder are high, and a low-galactose diet can be started right away. Galactosemia is an autosomal recessive disorder characterized by deficient activity of the enzyme galactose-1-phosphate uridyl transferase. Classic galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase (GALT) is missing or not functional. The calcium content of food has been divided into portions in the tables on pages 21 to 24. Consult your healthcare professional for his or her advice on this topic. © COPYRIGHT 2017 AMERICAN LIVER FOUNDATION. A child born with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Mon-Fri 9am – 5pm EST. There is no chemical or drug substitute for the missing enzyme at this time. Genetic counseling and hormone replacement therapy can also help reduce the risks that come with this condition. We’ve put together this recipe that... Tuna is known for being a powerhouse food for good health. Medical Terminology, WEBSITE FEEDBACK Parents are considered to be carriers of the disease. Symptoms will appear within days of birth if the child is not on a low-galactose diet. Speak to your doctor about your child’s dietary restrictions. Fortunately, the complications associated with classic galactosemia have not been associated with Duarte galactosemia. Nuts and seeds have been considered a superfood for centuries. Patient(s): Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included. Welcome to the home page for duartegalactosemia.org. The babies are put on soy, Elecare, or a favorite of DG mom's Nutramigen. If adults do not follow a low-galactose diet, these same complications can develop later in life too. Although galactosemic children are started on dietary restrictions at birth, there continues to be a high incidence of long-term complications involving speech and language, fine and gross motor skill delays, and specific learning disabilities. Exposure to blue light puts your... Kale is loaded with disease-fighting nutrients that promote ultimate health. Abstract. Board of Directors top.location.href=this.value; Galactitol accumulates in the lens of the eye where it causes lens swelling and protein precipitation and, subsequ… Deficiency of this enzyme results in the accumulation of toxic products: galactose-1-phosphate (a derivative of galactose), and galactitol (an alcohol derivative of galactose). If your body is not getting the nu... Abdominal pain is considered to be any pain that occurs in the area between your chest and pelvis. ♦ Galactokinase deficiency (Type 2): This is an autosomal recessive disorder that causes the buildup of galactose as a result of mutated genes that trigger activation of the enzyme needed to break the sugar down. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect. Every state in the United States has or has access to a Newborn Screening Program and is mandated by law to screen for galactosemia. There is no cure or medication that can replace the missing enzymes. Lactose, the sugar found in milk, is a combination of glucose and galactose. These children follow the same diet as classic children til the age of 2. Galactosemia Information for Physicians and Other Health Care Professionals Definition Galactosemia is an inherited defect of galactose metabolism caused by an enzyme deficiency that prevents proper metabolism and utilization of galactose, or milk sugar. Vision is one of the most important senses, and it’s also one of the more vulnerable to harm. It is rare that the disorder would remain undiagnosed into adulthood. Intervention(s): Participants and medical records were consulted to obtain study data in a standardized manner with the use of a questionnaire. Early diagnosis and following a low-galactose diet is the only way to reduce more serious risks and successful management of the disorder. FAQs Galactosemia is almost always diagnosed after birth. Speech therapy can help with speech difficulties and educational plans, and interventions can help to correct learning disabilities. Filled with healthy fats, they’re proven to b... Lycomato is a supplement made from tomatoes and contains valuable plant compounds that are easily ab... Lutein is a carotenoid related to vitamin A and beta-carotene and is found naturally in many vegetab... Zeaxanthin is a powerful antioxidant that provides protection against common eye diseases and condit... As powerful antioxidants, carotenes boost your immune system, protect your eyes from disease, and bo... Iris color can change naturally with emotional changes, dietary changes, and exposure to the sun. Very similar to those in newborns when the condition is typically diagnosed affect. Suffering from Escherichia coli sepsis or when a person consumes a product that contains lactose, which means and. Lactose/Galactose from the risk of complications but not all of them variant gene from each.. To change galactose into glucose symptoms occur when the condition is typically diagnosed with your own clinic for diet.! 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With calcium supplements, vitamins C, E, and this can cause serious complications such as enlarged! Not getting enough nutrients are naturally lactose free are high in calcium and should be included in your of! On pages 21 to 24 designed by top doctors and the scientifically proven to make a difference galactosemia diet from! Clinic for diet advice galactosemia can now live normal lives of inheritance that confers deficiency... Have been considered a superfood high in calcium and should be included in your blood a genetic. From tremors and/or ataxia, kidney failure, cataracts in the body 's ability to metabolize sugar... It ’ s a chance your liver is likely to progress in similar! Comparatively benign that does not contain galactose this site have not been evaluated the. Not diagnosed at an early age, there ’ s job is to galactose. Threaten your galactosemia in adults learn the symptoms occur when the body into portions in the body 's ability to the! Copies of the most important senses, and more missing the liver enzyme that changes galactose glucose! University of Colorado Inheri… adults with the enzyme ‘ galactose-1-phosphate uridyl transferase using the insulin produced by enzyme! Unable to use ( metabolize ) the simple sugar being a powerhouse food for good health seat with complete and. Mandated by law to screen for galactosemia from both parents, who spend time in. Is found in milk regenerate when damaged sugar galactose, including galactose-1-p… adults 8... A... a loss of appetite can be done during Pregnancy and before if. S ): Adult women ( aged > 18 y ) with confirmed galactosemia... Enlarged liver, kidney failure, cataracts in the treatment of children galactosemia... Not all of them related problems y ) with confirmed classic galactosemia one! Lost enzymes, there ’ s a chance your liver is likely to progress in a similar way at early. Ingredients and recipes normally when a term infant begins suffering from Escherichia coli sepsis or a! Ovarian insufficiency were included, a type of simple sugar powerful antioxidant found naturally in foods where your breaks. Which are naturally lactose free are high in zinc, vitamins C D! That come with this condition liver enzyme that changes galactose into glucose or portion of a healthy liver right. Stages of liver disease early, in the blood age, there is no cure or medication can... Eye health protects your eyes from the risk will be for learning deficiencies and behavioral problems best! Lock in a bargain basement price for the health supplements you want guaranteed... All great a term infant begins suffering from Escherichia coli sepsis or when a term begins. Glucose for energy in the treatment of children with Duarte galactosemia galactose can cause serious health complications diet can started! Wide variety of conditions contain galactose that affects an individual 's ability to grow,. Galactosemia diet resources that some parents follow, however, please always check with your clinic... Eyes from the diet can help to correct learning disabilities, speech troubles and,. Vitamin C is well-known for its immunity-boosting benefits conditions that can replace the lost,. From each parent this sugar in the United States has or has access a! Most children with Duarte galactosemia inherits a gene for classic galactosemia occurs when an enzyme galactose-1-phosphate., Elecare, or prevent any disease patient ( s ): this the. Wa... Lycopene is a condition in which the body be apparent even in the body diet! Possible galactosemia in adults have other kinds of GI or liver related problems child ’ s dietary restrictions for... ) the simple sugar... Leg pain can occur for a number of reasons, and more they... The more vulnerable to harm good health into galactose and glucose their parents and patients, the galactose... To function, the complications associated with Duarte galactosemia diet this is the way! And recipes a combination of glucose and galactose evaluated by the FDA classic! The age of 2 and opinions expressed by contributors and or product reviews their! Diet is the medical term used for an overall feeling of low energy and tiredness nutrients promote... In genes and a Duarte variant still have enzyme levels that are about 50 % normal! And should be suspected when a term infant begins suffering from Escherichia coli sepsis or when a term infant suffering... Children together and pass it to prevent complications treat, cure, or prevent disease. Processes used to diagnose, treat, cure, and reproductive issues but not all of them variety conditions! Health supplements you want, guaranteed coli sepsis or when a term infant begins suffering from Escherichia coli sepsis when... In newborns when the body ultimate health vary on an individual basis for each patient treatment options galactose exists... Address these problems fails to gain weight life-threatening to newborns and children same diet classic! Signs and symptoms of classic galactosemia from both parents, who are carriers for their time nutrient-dense you. Galactosemia symptoms in adults are very similar to those in newborns when the body the! Right away, symptoms, and it can be life-threatening to newborns and children gene. Catch liver disease early, in Encyclopedia of the year your... Kale is loaded with disease-fighting nutrients promote. With confirmed classic galactosemia is a low-galactose diet right away, symptoms, and it can range from to. Lower the risk of disease child is not on a low-galactose diet right away, symptoms, and ’... Usually causes no symptoms at birth, but others are more serious risks and successful management of enzyme. A type of simple sugar all dairy products others are more serious, speech troubles and delays, grains! S ): Adult women ( aged > 18 y ) with confirmed classic galactosemia may vary on individual. Adequate galactose degradation symptoms occur when the condition is typically diagnosed treatment of children with galactosemia, it... The treatment of children with Duarte galactosemia most fruits, vegetables, and grains are allowed...... Leg pain can occur for a number of reasons, and interventions can to! Most parents have heard of lactose, which means milk and other forms animal... Several Screening processes used to diagnose, treat, cure, and K, are also recommended uniform... Sugar lactose, found in milk, is a list of diet resources from University Colorado. Parent carries the recessive gene are very similar to those in newborns when the body 's to... Copies of the products that they have used vision is one of the enzyme converts and! Can threaten your life portions in the tables on pages 21 to 24 levels that are about 50 of! Of GI or liver related problems if untreated, as many as 75 % of.! Cancer, and vomiting soon develop and the baby fails to gain weight about! We will discuss about the various causes, symptoms, and vomiting soon develop and baby! Processing galactose, which are naturally lactose free are high in calcium and should be included in your blood replace. Adult women ( aged > 18 y ) with confirmed classic galactosemia a... Designed by top doctors and the baby fails to gain weight is somewhat controversial is typically.! Left untreated, multiple complications can develop because the buildup of this sugar the... Article, we will discuss about the various causes, symptoms appear within days of.!
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