KEGG DISEASE: Galactokinase deficiency

KEGG

DISEASE: Galactokinase deficiency

Entry

H02009                      Disease

Name

Galactokinase deficiency;
Galactosemia II

Supergrp

Galactosemia [DS:H00070]

Description

Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the eye is converted in galactitol and causes ultimately cataracts. The condition can be treated by removal of galactose and lactose from the diet.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C51  Inborn errors of carbohydrate metabolism
     H02009  Galactokinase deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
  nt06023  Galactose degradation
   H02009  Galactokinase deficiency

Pathway

Galactose metabolism

Network

nt06023 Galactose degradation

Gene

GALK1 [HSA:2584] [KO:K00849]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Asada M, Okano Y, Imamura T, Suyama I, Hase Y, Isshiki G

Title

Molecular characterization of galactokinase deficiency in Japanese patients.

Journal

J Hum Genet 44:377-82 (1999)
DOI:10.1007/s100380050182

Reference

Authors

Sangiuolo F, Magnani M, Stambolian D, Novelli G

Title

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Journal

Hum Mutat 23:396 (2004)
DOI:10.1002/humu.9223

Reference

Authors

Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D

Title

Novel mutations in 13 probands with galactokinase deficiency.

Journal

Hum Mutat 15:447-53 (2000)
DOI:10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M

LinkDB

» Japanese version

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