KEGG   DISEASE: Galactosemia
Entry
H00070                      Disease                                

Name
Galactosemia
  Subgroup
Galactose-1P uridylyltransferase deficiency [DS:H02008]
Galactokinase deficiency [DS:H02009]
Galactose epimerase deficiency [DS:H02010]
Description
Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the 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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of carbohydrate metabolism
   H00070  Galactosemia
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
     H00070  Galactosemia
Related
pathway
hsa00052  Galactose metabolism
hsa00520  Amino sugar and nucleotide sugar metabolism
Network
nt06023  Galactose degradation
  Element
N00848  GALE deficiency in galactose degradation
N00849  GALT deficiency in galactose degradation
N00850  GALK1 deficiency in galactose degradation
N01333  GALM deficiency in galactose degradation
Gene
(GALAC1) GALT [HSA:2592] [KO:K00965]
(GALAC2) GALK1 [HSA:2584] [KO:K00849]
(GALAC3) GALE [HSA:2582] [KO:K01784]
(GALAC4) GALM [HSA:130589] [KO:K01785]
Comment
Galactosemia is routinely detected by a newborn screening test.
Other DBs
ICD-11: 5C51.4
ICD-10: E74.2
MeSH: D005693
OMIM: 230400 230200 230350 618881
Reference
  Authors
Fridovich-Keil JL
  Title
Galactosemia: the good, the bad, and the unknown.
  Journal
J Cell Physiol 209:701-5 (2006)
DOI:10.1002/jcp.20820
Reference
  Authors
Bosch AM
  Title
Classical galactosaemia revisited.
  Journal
J Inherit Metab Dis 29:516-25 (2006)
DOI:10.1007/s10545-006-0382-0
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)
DOI:10.1038/ng0795-307
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)
DOI:10.1086/302263
Reference
  Authors
Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S
  Title
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
  Journal
Genet Med 21:1286-1294 (2019)
DOI:10.1038/s41436-018-0340-x

» Japanese version

DBGET integrated database retrieval system