ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism

ICD-11 Inborn errors of metabolism

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).

The diagnosis includes nothing.

Diagnosis contains 13 clarifying diagnoses:

1. 5C50 — Inborn errors of amino acid or other organic acid metabolism
   It contains 19 clarifying diagnoses.
2. 5C51 — Inborn errors of carbohydrate metabolism
   It contains 9 clarifying diagnoses.
3. 5C52 — Inborn errors of lipid metabolism
   It contains 5 clarifying diagnoses.
4. 5C53 — Inborn errors of energy metabolism
   It contains 7 clarifying diagnoses.
5. 5C54 — Inborn errors of glycosylation or other specified protein modification
   It contains 5 clarifying diagnoses.
6. 5C55 — Inborn errors of purine, pyrimidine or nucleotide metabolism
   It contains 5 clarifying diagnoses.
7. 5C56 — Lysosomal diseases
   It contains 7 clarifying diagnoses.
8. 5C57 — Peroxisomal diseases
   It contains 6 clarifying diagnoses.
9. 5C58 — Inborn errors of porphyrin or heme metabolism
   It contains 4 clarifying diagnoses.
10. 5C59 — Inborn errors of neurotransmitter metabolism
    It contains 5 clarifying diagnoses.
11. 5C5A — Alpha-1-antitrypsin deficiency
12. 5C5Y — Other specified inborn errors of metabolism
13. 5C5Z — Inborn errors of metabolism, unspecified