" /> Disorders of glyoxylate metabolism - CISMeF





ICD-11 code : 5C51.2;

Preferred Label : Disorders of glyoxylate metabolism;

ICD-11 definition : 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.;

ICD-11 synonym : Hyperoxaluria;

ICD-11 inclusion : Oxalosis; Oxaluria;

ICD-11 "other" category code : 5C51.2Y;

ICD-11 "unspecified" category code : 5C51.2Z;

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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.

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19/07/2025


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