Primary hyperoxaluria type 1

Description

Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterised by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, haematuria, renal colic or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain.

Index terms

Primary hyperoxaluria type 1
2-oxoglutarate glyoxylate carboligase deficiency
Alanine-glyoxylate aminotransferase deficiency

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Oxalosis type 1

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

Sibling codes

5C51.2Y – Other specified disorders of glyoxylate metabolism
5C51.2Z – Disorders of glyoxylate metabolism, unspecified

Foundation entity

Primary hyperoxaluria type 1 – http://id.who.int/icd/entity/692812009

Part of: 5C51.2: Disorders of glyoxylate metabolism › 5C51: Inborn errors of carbohydrate metabolism › 05: Endocrine, nutritional or metabolic diseases