Tyrosinaemia type 2

Description

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit.

Index terms

Tyrosinaemia type 2
Hepatic tyrosine aminotransferase deficiency
Keratosis palmoplantaris - corneal dystrophy

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Oculocutaneous tyrosinaemia
Richner-Hanhart syndrome
Tyrosine transaminase deficiency

Exclusions from above levels

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

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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

5C50.10 – Alkaptonuria
5C50.11 – Tyrosinaemia type 1
5C50.1Y – Other specified disorders of tyrosine metabolism
5C50.1Z – Disorders of tyrosine metabolism, unspecified

Foundation entity

Tyrosinaemia type 2 – http://id.who.int/icd/entity/1900229795

Part of: 5C50.1: Disorders of tyrosine metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases