Galactose epimerase deficiency
- Galactose epimerase deficiency
Infobox_Disease
Name = PAGENAME
Caption = Uridine diphosphate glucose
DiseasesDB = 29842
ICD10 =
ICD9 =
ICDO =
OMIM = 230350
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =
Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency,[OMIM|230350] is a rare form of galactosemia associated with a deficiency of the enzyme "galactose epimerase".]Inheritance
Galactose epimerase deficiency is an autosomal recessive disorder, [cite journal |pmid=16301867 |year=2005 |month=Nov |author=Park HD, Park KU, Kim JQ, Shin CH, Yang SW, Lee DH, Song YH, Song J |title=The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patientsxz |volume=7 |issue=9 |pages=646-649 |issn=1098-3600 |journal=Genetics in medicine: official journal of the American College of Medical Genetics] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
External links
* http://dwb.unl.edu/Teacher/NSF/C11/C11Links/web.indstate.edu/thcme/mwking/non-glucose-metabolism.html
References
Wikimedia Foundation.
2010.
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