Galactokinase deficiency

Description

Galactokinase deficiency is a rare mild form of galactosemia characterised by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

Index terms

Galactokinase deficiency
GALK - [galactokinase 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

Sibling codes

5C51.40 – Galactose-1-phosphate uridyltransferase deficiency
5C51.42 – Glucose or galactose intolerance of newborn
5C51.4Y – Other specified disorders of galactose metabolism
5C51.4Z – Disorders of galactose metabolism, unspecified

Foundation entity

Galactokinase deficiency – http://id.who.int/icd/entity/1173858031

Part of: 5C51.4: Disorders of galactose metabolism › 5C51: Inborn errors of carbohydrate metabolism › 05: Endocrine, nutritional or metabolic diseases