Catalog
Inborn errors of metabolism
No MMS code
Link to WHO Definition
Inborn errors of metabolism – http://id.who.int/icd/entity/733825440
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
Parents
Children
- 5C59 Inborn errors of neurotransmitter metabolism
- 5C51 Inborn errors of carbohydrate metabolism
- 5C50 Inborn errors of amino acid or other organic acid metabolism
- Autosomal dominant myoglobinuria
- 5C52 Inborn errors of lipid metabolism
- 5C53 Inborn errors of energy metabolism
- 5C58 Inborn errors of porphyrin or heme metabolism
- 5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism
- 5C56 Lysosomal diseases
- Genetic recurrent myoglobinuria
- 5C57 Peroxisomal diseases
- 5C5A Alpha-1-antitrypsin deficiency
- 5C54 Inborn errors of glycosylation or other specified protein modification