KEGG   DISEASE: H00070Help
Entry
H00070                      Disease                                

Name
Galactosemia
Description
Galactosemia is an autosomal recessive disorder caused by a defect in one of the three enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Galactose metabolism
Amino sugar and nucleotide sugar metabolism
Gene
(Type 1) GALT; galactose-1P uridylyltransferase [HSA:2592] [KO:K00965]
(Type 2) GALK1; galactokinase 1 [HSA:2584] [KO:K00849]
(Type 3) GALE; UDP-galactose-4-epimerase [HSA:2582] [KO:K01784]
Marker
GALT [HSA:2592]
galactose [CPD:C00124]
Comment
Galactosemia is routinely detected by a newborn screening test.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Fridovich-Keil JL
  Title
Galactosemia: the good, the bad, and the unknown.
  Journal
J Cell Physiol 209:701-5 (2006)
Reference
  Authors
Bosch AM
  Title
Classical galactosaemia revisited.
  Journal
J Inherit Metab Dis 29:516-25 (2006)
Reference
PMID:9012409
  Authors
Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ
  Title
Molecular basis for Duarte and Los Angeles variant galactosemia.
  Journal
Am J Hum Genet 60:366-72 (1997)
Reference
PMID:7670469
  Authors
Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ
  Title
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
  Journal
Nat Genet 10:307-12 (1995)
Reference
PMID:9973283
  Authors
Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL
  Title
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
  Journal
Am J Hum Genet 64:462-70 (1999)

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