ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 — Inborn errors of carbohydrate metabolism
5C51.2 — Disorders of glyoxylate metabolism
ICD-11 5C51.2 — Disorders of glyoxylate metabolism
Primary hyperoxaluria, or oxalosis, is a rare metabolic disorder transmitted as an autosomal recessive disease, including both type 1, the most frequent, and type 2, extremely rare. Hyperoxaluria type 1 is due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Hyperoxaluria type 2 is extremely rare and is due to glycerate dehydrogenase deficiency.
The diagnosis includes nothing.
The diagnosis excludes nothing.
Diagnosis with code 5C51.2 contains 3 clarifying diagnoses:
- 5C51.20 — Primary hyperoxaluria type 1
- 5C51.2Y — Other specified disorders of glyoxylate metabolism
- 5C51.2Z — Disorders of glyoxylate metabolism, unspecified