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Summary
SORBITOL DEHYDROGENASE (DEFICIENCY)
SORD
182500
OMIM = Online Medalian Inheritance of Men
15q21.1

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
symptoms
cataract
onset, newborn
laboratory finding
D-Sorbitol increasedurine
Literature
Nowaczyk MJ,et al.Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new caseJ Inherit Metab Dis195655-6601996
Tajiri MKadoya M, Wada YDissociation profile of protonated fucosyl glycopeptides and quantitation of fucosylation levels of glycoproteins by mass spectrometryJ Proteome Res82688-6932009
de Cock PJaeken JMGAT2 deficiency (CDG-IIa): The Life of JBiochim Biophys Acta002009
Faid Vet al.A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesisProteomics7111800-18132007
Hong Yet al.The Lec23 Chinese hamster ovary mutant is a sensitive host for detecting mutations in alpha-glucosidase I that give rise to congenital disorder of glycosylation IIb (CDG IIb)J Biol Chem2794849894-9012004
Foulquier Fet al.Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type IIProc Natl Acad Sci U S A103103764-37692006
Wang YSchachter H, Marth JDMice with a homozygous deletion of the Mgat2 gene encoding UDP-N-acetylglucosamine:alpha-6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II: a model for congenital disorder of glycosylation type IIaBiochim Biophys Acta15733301-3112002
Zeevaert Ret al.Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1Hum Mol Genet183517-5242009