Document Detail

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
MedLine Citation:
PMID:  7305435     Owner:  NLM     Status:  MEDLINE    
A baby presented on day 5 with symptoms of classical galactosaemia which are believed to be owing to a lack of uridine diphosphate-4-epimerase, rather than to the usual galactose-1-phosphate uridyl transferase defect. Apart from galactosaemia the condition was characterised biochemically by a red cell accumulation of galactose-1-phosphate and uridine diphosphate galactose. Galactose restriction modified the acute clinical and biochemical abnormality, but it appears essential to include some galactose in the diet in this condition to allow synthesis of galactosides, including the brain gangliosides.
J B Holton; M G Gillett; R MacFaul; R Young
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  56     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1981 Nov 
Date Detail:
Created Date:  1982-01-20     Completed Date:  1982-01-20     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  885-7     Citation Subset:  AIM; IM    
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MeSH Terms
Carbohydrate Epimerases / deficiency*
Erythrocytes / enzymology
Galactose / metabolism
Galactosemias / enzymology*,  genetics
Infant, Newborn
UDPglucose 4-Epimerase / blood,  deficiency*
Reg. No./Substance:
26566-61-0/Galactose; EC 5.1.3.-/Carbohydrate Epimerases; EC 4-Epimerase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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