Galactose-1-phosphate uridyltransferase deficiency

Description

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

Index terms

Galactose-1-phosphate uridyltransferase deficiency
Classical galactosaemia
GALPUT deficiency - [Galactose-4-phosphate uridyltransferase] deficiency

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classic galactosaemia
deficiency of galactose-1-phosphate uridylyltransferase
deficiency of hexose-1-phosphate uridylyltransferase
deficiency of udpglucose-hexose-1-phosphate uridylyltransferase
deficiency of uridyl transferase
deficiency of utp-hexose-1-phosphate uridylyltransferase
galactose-1-phosphate uridyl transferase deficiency
transferase deficiency galactosemia
utp-hexose-1-phosphate uridyltransferase 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

5C51.41 – Galactokinase 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

Galactose-1-phosphate uridyltransferase deficiency – http://id.who.int/icd/entity/2011000259

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