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Galactose disorders: an overview.
J Inherit Metab Dis. 1990; 13(4):476-86.JI

Abstract

There are three separate disorders of galactose metabolism of clinical importance. Galactokinase deficiency mainly causes cataracts which regress without complications providing a galactose-free diet is started early enough. UDPgalactose-4-epimerase deficiency seems extremely rare. A common feature of the two reported cases is nerve deafness. Galactose-1-phosphate uridyl transferase deficiency poses the greatest problems because of the poor long-term outcome in spite of a galactose-restricted diet, and with no clear indications of how and when the underlying damage occurs. Recent evidence of low erythrocyte and tissue UDPgal levels, associated with ovarian dysfunction, may indicate impaired galactoside synthesis. Administration of uridine corrects the UDPgal depletion and trials in which it is added to the galactose-restricted diet have begun.

Authors+Show Affiliations

Department of Clinical Chemistry, Southmead Hospital, Bristol, UK.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

2122114

Citation

Holton, J B.. "Galactose Disorders: an Overview." Journal of Inherited Metabolic Disease, vol. 13, no. 4, 1990, pp. 476-86.
Holton JB. Galactose disorders: an overview. J Inherit Metab Dis. 1990;13(4):476-86.
Holton, J. B. (1990). Galactose disorders: an overview. Journal of Inherited Metabolic Disease, 13(4), 476-86.
Holton JB. Galactose Disorders: an Overview. J Inherit Metab Dis. 1990;13(4):476-86. PubMed PMID: 2122114.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactose disorders: an overview. A1 - Holton,J B, PY - 1990/1/1/pubmed PY - 1990/1/1/medline PY - 1990/1/1/entrez SP - 476 EP - 86 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 13 IS - 4 N2 - There are three separate disorders of galactose metabolism of clinical importance. Galactokinase deficiency mainly causes cataracts which regress without complications providing a galactose-free diet is started early enough. UDPgalactose-4-epimerase deficiency seems extremely rare. A common feature of the two reported cases is nerve deafness. Galactose-1-phosphate uridyl transferase deficiency poses the greatest problems because of the poor long-term outcome in spite of a galactose-restricted diet, and with no clear indications of how and when the underlying damage occurs. Recent evidence of low erythrocyte and tissue UDPgal levels, associated with ovarian dysfunction, may indicate impaired galactoside synthesis. Administration of uridine corrects the UDPgal depletion and trials in which it is added to the galactose-restricted diet have begun. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/2122114/Galactose_disorders:_an_overview_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1990&volume=13&issue=4&spage=476 DB - PRIME DP - Unbound Medicine ER -