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Birth Defects - Metabolic Defects

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Metabolic Defects - Other Metabolic Disorder












Disorder Defective / deficient protein Clinical features Treatment
Amino acid metabolism - Maple syrup urine disease Branched chain keto-acid dehydrogenase Sugary smelling urine, breathing, feeding problems, mental retardation, death. Dietary restriction of branched chain amino acids
Carbohydrate metabolism- Galactosemia Galactose-1-phosphate uridyl transferase  Inability to digest milk and milk products, vomiting, enlarged liver, jaundice, cataract, mental retardation and death if untreated. Exclusion of galactose from the diet
Nucleic acid metabolism- Adenosine deaminase deficiency Adenosine deaminase Toxicity to lymphocytes, causing severe combined immunodeficiency disease. Fatal if left untreated. Gene therapy

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