| 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 |