Classic galactosemia

Classic galactosemia Newborn Screenin

Classic galactosemia is an inherited (genetic) condition that prevents the body from breaking down a sugar called galactose. Your body gets energy from breaking down galactose in milk and other foods. Several enzymes break down galactose into other substances that your body can use or remove. There are different types of galactosemia Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented. Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications

Classic Galactosemia and Clinical Variant Galactosemia

Classic galactosemia (type 1) - the most common and severe type, caused by mutations in the GALT gene, and characterized by a complete deficiency of an enzyme called galactose-1-phosphate uridyl transferase (GALT). Early signs and symptoms include liver dysfunction, susceptibility to infections, failure to thrive, and cataracts. These can. Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy. Classic galactosemia and clinical variant galactosemia are inherited in an autosomal recessive manner. Couples who have had one affected child have a 25% chance of having an affected child in each subsequent pregnancy. Molecular genetic carrier testing for at-risk sibs and prenatal testing for pregn

Classic Galactosemia (ORPHA79239) is an autosomal recessive inherited metabolic disorder caused by deficient activity of galactose-1-phosphate uridyl transferase (GALT), as a result of mutations in the GALT gene. GALT is the second of three enzymes in the Leloir pathway- the main pathway of galactose metabolism Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate. Classic galactosemia, caused by a deficiency in GALT due to GALT gene variants, is the most common and most severe form and can lead to liver disease, sepsis, or death if not diagnosed and treated soon after birth. Newborn screening for classic galactosemia, which affects approximately one in 53,500 neonates in the United States, is required in. Galactosemia is a family of genetic disorders that result from compromised ability to metabolize the sugar galactose; the term galactosemia literally means too much galactose in the blood. The different types of galactosemia include. Classic and clinical variant galactosemia (aka Type 1 galactosemia) Duarte variant galactosemia

Classic galactosemia (GALT) is an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods that contain milk. If a child with GALT eats galactose, undigested sugars build up in the blood rather than being used for energy ♦ Classic variant galactosemia (Type 1): This is the most common type that appears in infancy. If not given a low-galactose diet right away, symptoms appear within days of birth. If not given a low-galactose diet right away, symptoms appear within days of birth Classic galactosemia is diagnosed in the range of 1/16,000 to 1/48,000 births through newborn screening programs around the world, depending on the diagnostic criteria used by the program. The disorder has been reported in all ethnic groups. An increased frequency of galactosemia occurs in individuals of Irish ancestry Galactosemia is a rare genetic disorder that affects how your body metabolizes galactose. Galactose is a simple sugar found in milk, cheese, yogurt, and other dairy products

Current and Future Treatments for Classic Galactosemi

Galactosemia Genetic and Rare Diseases Information

Classic Galactosemia (GALT) Health Care Professional Fact Sheet A newborn screening test is a screen and not diagnostic testing. An abnormal or critical result on a newborn screen indicates the baby may be at a higher risk of having a disorder; however, it does not diagnose the baby with the condition Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate But in people with Classic Galactosemia, the missing or inactive GALT enzyme leads to an excess build-up of Gal-1p and galactose. GALT GALT is an enzyme that helps the body convert Gal-1p into glucose, which is used for energy. Classic Galactosemia is the term used for people who are missing or have an inactive GALT enzyme Classic Galactosemia: Indian Scenario. Sheila Bhave and Ashish Bavdekar. Gastroenterology and Liver Unit, Department of Pediatrics, KEM Hospital, Pune. Email: kemhrc@vsnl.net Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Most. Whereas classic galactosemia is part of the newborn screening programs of many countries, most children will present with clinical symptoms, such as feeding problems, jaundice progressing to liver failure, and sepsis, before the screening results are available. Infants with classic galactosemia must be prescribed a galactose-free formula

Galactosemia: MedlinePlus Genetic

This causes galactose to build up in the blood, creating problems, especially for newborns. There are three main types of galactosemia: Classic (type I) Galactokinase deficiency (type II. Untreated newborns with galactosemia are at increased risk for E. coli septicemia, a life-threatening blood infection. Moreover, children with classic galactosemia may be at risk for short stature, learning disabilities, gait and balance problems, tremors, speech and language disorders, and premature ovarian failure :- https://bit.ly/2RQHvTN. GALT (galactose-1 phosphate uridyl transferase) deficiency. This is also known as classic galactosemia. It is the most common and severe form of the disorder. GALK (galactose kinase) deficiency; GALE (galactose epimerase) deficiency; If a baby with a GALT, GALK, or GALE deficiency eats food with galactose, high levels of sugar build up in the. The pregnancy rate in women with classic galactosemia and primary ovarian insufficiency was higher than for women with primary ovarian insufficiency of any cause. This shifting paradigm carries significant implications for fertility counseling and potential application of fertility preservation tech

Classic Galactosemia and Clinical Variant Galactosemi

Elevated levels of galactose in the blood can be caused by several defects in galactose metabolism. Classical galactosemia is an autosomal recessive defect in the utilisation of galactose 1-phosphate via galactose -1- phosphate uridylyltransferase (GALT; EC2.7.7.12) (Fridovich- Keil and Walter 2008). Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency that causes hypergalactosemia The international network for the galactosemias (GalNet) developed and implemented a web-based patient registry in 2014, the GalNet registry, that includes type I (classic and variant galactosemia), type II (galactokinase deficiency) and type III galactosemia (galactose epimerase deficiency). This study aims to delineate the natural history of.

Galactose-1-phosphate uridyltransferase deficiency, or classic galactosemia, is the most frequent and the most severe of the three enzyme deficiencies; it is characterized by failure to thrive. Classic galactosemia occurs in the United States about one in every 50,000-70,000 live births. Signs and symptoms Galactosemia I. Galactosemia I (also called classic galactosemia), the first form to be discovered, is caused by abnormalities in both copies of the gene that codes for an enzyme called galactose-1-phosphate uridyl transferase (GALT) The following are treatments often advised for children with classic galactosemia: 1. Lactose and galactose-free diet People with classic galactosemia are encouraged to follow a lactose and galactose-free food plan throughout life. Lactose or galactose are found in the following foods, all of which must be avoided: Milk and all dairy product Galactose-1-phosphate uridyl-transferase (GALT) deficiency results in Classic Galactosemia, where homozygotes have less than 5% enzyme activity. Duarte variant galactosemia, with between 10% and 25% activity, results from the compound heterozygote state with a GALT mutation and a Duarte allele Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and shows a substantially lower Full Scale Intelligence Quotient (FSIQ) in CG patients than in the general population. Both problems in social functioning as well as.

Classic Galactosemia The Oncofertility Consortiu

Galactosemia - Wikipedi

  1. Classic galactosemia is inherited as an autosomal recessive disorder and almost all afflicted individuals will present with symptoms in the neonatal period if undiagnosed. Type 1 galactosemia occurs with a frequency of between 1:40,000 to 1:60,000 live births in Western countries. When the frequency of galactosemia inheritance is assessed by.
  2. Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1-phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features.
  3. Galactosemiais an inherited disorder of galactose metabolism caused by poor activity in one of the four enzymes in the Leloir pathway. The classic and severe form of presenta-tion is Galactose-1-phosphate uridyltransferase (GALT) deficiency which manifests itself practically from the neonatal period as a life-threatening disease and whose clinica
  4. Unfortunately, clinics do not provide uniform direction to their parents and patients, the recommended diet for Classic Galactosemia is somewhat controversial. Below is a list of diet resources that some parents follow, however, please always check with your own clinic for diet advice
  5. One cohort with classic galactosemia (CG) enters this treatment at age 2-5 months and is monitored closely using audio and video recordings and questionnaires. A second cohort with CG enters close monitoring at age 2-5 months but starts treatment at age 15 months. A typical cohort enters close monitoring at age 2-5 months
Galactosemia by Farshid Mokhberi

CLASSIC GALACTOSEMIA. Management overview — The main goal of long-term treatment of classic galactosemia is to minimize dietary galactose intake. Galactose should be excluded from the diet as soon as galactosemia is suspected. To continue reading this article, you must log in with your personal, hospital, or group practice subscription.. Classic galactosemia results from mutations in the galactose-1-phosphate uridyl transferase gene and causes infants to present with jaundice after initiation of lactose containing formulas The Company is currently evaluating the clinical benefit and safety of AT-007 in pediatric patients 2 to 17 years of age with classic galactosemia in the phase 3 ACTION-Galactosemia Kids study. Frequency Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III are less common; type II probably affects fewer than 1 in 100,000 newborns and type III appears to be very rare. 34. Mode of inheritance To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent

Classic GalactosemiaGalactosemia

Types of galactosemia. There are three forms of this disease. These include type I or classic galactosemia, which is the most common and severe form of the disease, whereas type II and type III. Classic Galactosemia: Indian Scenario. Sheila Bhave and Ashish Bavdekar. Gastroenterology and Liver Unit, Department of Pediatrics, KEM Hospital, Pune. Email: kemhrc@vsnl.net Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Most.

Classic Galactosemia Choose the Right Tes

Definição A galactosémia é uma doença hereditária rara do metabolismo da galactose. A galactose quando ligada à glicose forma a lactose, o açúcar do leite. Frequência A galactosémia clássica tem uma incidência de 1:23000-44000 recém-nascidos (RN) na Europa. Na população asiática esta doença é mais rara. Em Portugal, a sua prevalência é desconhecida Summary. All classic disorders of carbohydrate metabolism result from a specific enzyme defect. Almost all of these enzyme defects are inherited in an autosomal recessive fashion. These metabolic diseases may be classified into three main groups, affecting the metabolism of glycogen, galactose, and fructose.Clinical manifestations are variable and range from occasional innocuous hypoglycemia. Based upon reports by newborn screening programs, the frequency of classic galactosemia in the United States is approximately 1 in 30,000, although literature reports range from 1 in 10,000 to 1 in 60,000 live births. Galactose-1-phosphate (Gal-1-P) accumulates in the erythrocytes of patients with galactosemia. The quantitative measurement of.

Because classic galactosemia is rare, families from all over the United States participate. We even have families from overseas who participate. The entire program is done online, using telepractice software that's designed for research and clinical purposes, especially regarding the participants' privacy and confidentiality Galactosemia is an autosomal recessive disorder that affects newborns who are born asymptomatic, apparently well and healthy, then develop serious morbidity and mortality upon consuming milk that contains galactose. Those with galactosemia have a deficiency of an enzyme: classic galactosemia (type 1) results from severe deficiency of galactose.

What Is Galactosemia? — Galactosemia Foundatio

ガラクトース血症(ガラクトースけっしょう、Galactosemia)は、糖の一種であるガラクトースを代謝する酵素を欠くために生じる、遺伝的疾患である先天性炭水化物代謝異常症のひとつ。 この病気は1917年にGoppertによって発見された 。 発症頻度は、タイプ1の場合おおよそ47,000人に1人と推定され. Newborn screening now identifies almost all infants with classic galactosemia born in the U.S. and many other countries, enabling early dietary intervention to restrict galactose exposure. ga·lac·to·se·mi·a (gə-lăk′tə-sē′mē-ə) n. An inherited metabolic disorder characterized by deficiency of an enzyme necessary for the metabolism of galactose, a sugar found in milk, milk products, many legumes, and organ meats. The disorder results in elevated levels of galactose in the blood and can lead to intellectual disability and eye. Classic galactosemia, also called galactosemia type 1, galactose-1-phosphate uridylyltransferase deficiency or GALT deficiency, is an autosomal recessive. disorder , caused by an inborn deficency of enzyme galactose-1-phosphate uridylyltransferase ( GALT ) involved in the metabolism of galactose. The conseguent accumulation of galactose in the.

Newborn screening information for classic galactosemia

Classical galactosemia occurs in approximately 1 in 50,000 newborns. Genetics of Galactosemia . Mutations in the gene cause GALT classical galactosemia and its variants. The GALT gene encodes galactose-1-phosphate uridyltransferase. Galactose, as a component of lactose, is a sugar found in large quantities in milk agnosis of classical galactosaemia is measurement of GALT activity in erythrocytes.Gas-chromatographicdetermination of urinary sugars and sugar alcohols demonstrates elevated concentrations of galactose and galactitol. The only ther-apy for patients with classical galactosaemia is a galactose-restricted diet, and initially all galactose must be.

Classic Galactosemia General Overview Q. What is galactosemia? A. Galactosemia is a treatable disorder that affects the way the body processes the sugar galactose, a component of milk and dairy products. Children with galactosemia cannot process galactose. If left untreated Classic galactosemia is a rare autosomal recessive metabolic disorder caused by an absence of the enzyme galactose-1-phosphate uridyltransferase. This enzyme normally catalyzes the reaction galactose-1-phosphate to glucose-1-phosphate in the galactose degradation pathway

classic galactosemia. Search For A Disorder. Galactosemia. Clinical Characteristics. Ocular Features: Neonatal cataracts are found among at least 30% of infants with this disorder. However, early (before 17 days of age) dietary restrictions can prevent their formation or even lead to regression Classic galactosemia is caused by a deficiency (mutation) in the enzyme galactose-1-phosphate uridylyltransferase (GALT; EC , which is the second enzyme in galactose metabolism [5]. In individuals with a mutated GALT gene the Lelior pathway is blocked, thus galactose builds up and reaches toxic levels in th e blood stream

Galactosemia: Causes, Symptoms, Treatments, and

  1. classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders. Method This is a case-control study of 32 children (66% male) with galactosemia and neurologic speech disorders and 130 controls (50% male) ages 4-16 years. Speech was assessed using the Percentage of Consonants Correct (PCC
  2. A patient diagnosed with Classic Galactosemia will have a deficiency of the enzyme galactose 1-phosphate uridyltransferase. A deficiency of this enzyme causes an inability to further metabolize galactose resulting in an excessive accumulation of galactose 1-phosphate and free galactose in tissues (Herman, 2009)
  3. Galactosemia is a genetic disorder that affects how certain sugars are broken down in the body. About 1 in 60 000 babies are born with galactosemia each year in Canada. People with galactosemia are missing the liver enzyme that changes galactose into glucose for energy in the body. Galactose is a sugar that may be found on its own in food, but.
  4. Cohort of patients with classic galactosemia Between 2009 and 2011, 10 French metabolic-disease management centers were invited to participate in the study, as well as the pediatric and adult endocrinology units and the French self-help group for patients with galactosemia (Association des Familles Galactosémiques de France). A questionnaire.
  5. Classical Galactosaemia is also an autosomal recessive condition caused by a deficiency of an enzyme galactose-1-phosphate uridyl transferase. This enzyme is important for the breakdown of galactose, one of the two sugars that make up lactose in human and cow's milk. Approximately one in every 19,000 infants born in Ireland may have this.

T1 - Classic galactosemia. T2 - natural history and new treatment approaches. AU - Haskovic, Minela. PY - 2020. Y1 - 2020. N2 - Newborns with classic galactosemia present with life-threatening symptoms upon exposure to galactose-containing milk. These symptoms can be quickly resolved by early initiation of a galactose- restricted diet There is Classic Galactosemia (as type 1) Galactokinase Deficiency (type 2), and Galactose Epirimase Deficiency (type 3). For the purpose of keeping focus, this paper will cover the specifics of only Type 1, Classic Galactosemia, the most common, most severe form of the condition. . Galactosemia is caused by a gene contributed from both parents Classic galactosemia type I is a metabolic disorder. It causes a low level or lack of an enzyme called galactose-1-phosphate uridyltransferase. This enzyme changes galactose to glucose. Galactose is a simple sugar found in milk products. Glucose is the usable form of sugar in the human body. Since there is not enough of the enzyme, galactose builds up in the blood

Classic galactosemia (GALT) is a disorder of sugar metabolism. Infants with this metabolic condition are not able to metabolize galactose, a sugar found in all milk products including breast milk. In these infants, galactose and its toxic byproducts build up in large amounts in bloo Looking for Classic Galactosemia? Find out information about Classic Galactosemia. inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in... Explanation of Classic Galactosemia FACT: Living with Classic Galactosemia means learning what's not recommended to eat. That includes milk chocolate, which can be high in lactose. Learn.. Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long-term complications including cognitive.

Classic Galactosemia (GALT) Parent Fact Sheet A newborn screening test is a screen and not diagnostic testing. An abnormal result on a newborn screen indicates the baby may be at a higher risk of having a disorder; however, it does not diagnose your baby with the condition. Many babies who receive abnormal results do not have the condition Classic galactosemia is an inherited metabolic disease for which, at present, no therapy is available apart from galactose-restricted diet. However, the efficacy of the diet is questionable, since it is not able to prevent the insurgence of chronic complications later in life. In addition, it is possible that dietary restriction itself could induce negative side effects. Therefore, there is a. of Classic Galactosemia (rats without GALT activity). In this model, AT-007 shows a beneficial effect on characteristic abnormalities associated with Galactosemia. No study in humans has been conducted to date. What is known so far about AT-007? So far, we know that AT-007 prevents complications of Galactosemia in a rat model of disease Classic galactosemia, the most severe form of the disease, can result in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, vomiting, seizures, hypoglycemia, lethargy, brain damage and ovarian failure. Without proper diagnosis and early treatment, 75% of infants with galactosemia die and that is why the newborn screening.

Developmental Defects in a Caenorhabditis elegans Model

Classic galactosemia is a human autosomal recessive disorder caused by deleterious mutations in the GALT gene that encodes the enzyme galactose-1-phosphate uridyltransferase. This disease is usually diagnosed soon after birth due to severe clinical symptoms caused by the toxicity of the galactose and lactose ingested from milk and affects more than 1 in 60,000 newborns worldwide (Fridovich. Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia Because classical galactosemia is a relatively rare disease with an averagee of 6 new cases per year in the Netherlands the patient group participating in this studyy is small. When calculated from Dutch incidence and birth rate we included 7 3 % of Dutchh patients age 1 to 5 (n=22), 58% of patients age 6 to 7 (n=7), and at least 35% of. Classic galactosemia is a potentially lethal metabolic disorder that affects more than 1 in 60 000 live births in many populations (reviewed in Ref. 1).Affected infants may appear normal at delivery but develop life-threatening complications within days to weeks of exposure to breast milk or a milk-based formula due to their inability to metabolize galactose

Relevant bibliographies by topics / Classic Galactosemia. Academic literature on the topic 'Classic Galactosemia' Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles. Select a source type: Book Website. The galactose stays in the body instead and with enough build-up, becomes a poison that can ultimately be fatal. Statistics on Galactosemia. 1. Type II Galactosemia has the same issues as classic Galactosemia, but only results in cataract formation when too much galactose is in the body. 2. Galactosemia is not the same as lactose intolerance Classic galactosemia (OMIM 230400) is an inherited disease of carbohydrate metabolism caused by a mutation in the Galactose-1-phosphate uridyltransferase (GALT) gene lead-ing to a complete or near complete aberrance of GALT activity. Its incidence in the Netherlands is about 1:33,00 Galactosemia is an inherited disorder. This means it is passed down through families. If both parents carry a nonworking copy of the gene that can cause galactosemia, each of their children has a 25% (1 in 4) chance of being affected with it. There are 3 forms of the disease: Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic. Galactose is a small natural sugar. It is found at high levels in milk, including breast milk, cow's milk, other animal milks, milk-based formula, and many dairy products like cottage cheese or ice cream. The. galactose in milk and dairy products is usually present in the form of lactose, or milk sugar, which is

Galactosemia is a metabolic disorder that some babies are born with. It's caused by problem with the enzymes that break down the sugar galactose. Babies with galactosemia (geh-lak-teh-SEE-mee-uh) have high levels of galactose in their blood. Lactose is the main type of sugar in milk, milk-based formulas, and breast milk The study is designed to assess the safety and PK of AT-007 in healthy subjects and subjects with Classic Galactosemia as well as the effect of AT-007 on biomarkers of galactose metabolism (galactose, galactitol, and other galactose metabolites) in subjects with Classic Galactosemia Classic galactosemia (OMIM 230400) is an autosomal recessive disorder that results from profound impairment of galactose-1-phosphate uridylyltransferase (GALT, EC, the middle enzyme in the Leloir pathway of galactose metabolism (see review by Fridovich-Keil and Walter, 2008).In most western populations, classic galactosemia occurs with a frequency of at least 1/60,000 live births.

Galactosemia - NORD (National Organization for Rare Disorders

  1. One cohort with classic galactosemia (CG) enters this treatment at age 2-5 months and is monitored closely using audio and video recordings and questionnaires. A second cohort with CG enters close monitoring at age 2-5 months but starts treatment at age 15 months. A typical cohort enters close monitoring at age 2-5 months
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Galactosemia Symptoms, Causes, and Treatment - What Is

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PPT - Galactosemia PowerPoint Presentation, free download

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