Birth Defects - Metabolic Defects
Metabolic Defects - Other Metabolic Disorder
||Defective / deficient
- Maple syrup urine disease
||Branched chain keto-acid
||Sugary smelling urine,
breathing, feeding problems, mental retardation, death.
||Dietary restriction of
branched chain amino acids
||Inability to digest milk
and milk products, vomiting, enlarged liver, jaundice,
cataract, mental retardation and death if untreated.
||Exclusion of galactose from
Adenosine deaminase deficiency
||Toxicity to lymphocytes,
causing severe combined immunodeficiency disease. Fatal if
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