Disorders of glyoxylate metabolism

Description

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.

Exclusions from above levels

5A41 – hypoglycaemia NOS
5A42 – Increased secretion of glucagon
5C56.3 – Mucopolysaccharidosis

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http://id.who.int/icd/entity/465177735 – Diabetes mellitus
http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia
5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Child codes

5C51.20 – Primary hyperoxaluria type 1
5C51.2Y – Other specified disorders of glyoxylate metabolism
5C51.2Z – Disorders of glyoxylate metabolism, unspecified

Sibling codes

5C51.0 – Disorders of the pentose phosphate pathway
5C51.1 – Disorders of glycerol metabolism
5C51.3 – Glycogen storage disease
5C51.4 – Disorders of galactose metabolism
5C51.5 – Disorders of fructose metabolism
5C51.Y – Other specified inborn errors of carbohydrate metabolism
5C51.Z – Inborn errors of carbohydrate metabolism, unspecified

Foundation entity

Disorders of glyoxylate metabolism – http://id.who.int/icd/entity/1800430868

Part of: 5C51: Inborn errors of carbohydrate metabolism › 05: Endocrine, nutritional or metabolic diseases