Document Detail

Borderline galactosemia.
MedLine Citation:
PMID:  7211358     Owner:  NLM     Status:  MEDLINE    
A family with combined heterozygosity for "classical" galactosemia (deficiency of uridyl-transferase) and for galactokinase deficiency is reported. The proband, who had this genetic combination was detected as newborn in the ordinary screening for galactosemia. A lactose tolerance test at the age of three months proved normal and he has no symptoms or signs on ordinary diet. The mother of the proband was not only heterozygote for "classical" galactosemia and galactokinase deficiency but also for the Durarte variant. She had a substantial urine excretion of galactose and high serum galactose after an oral lactose load. She had no clinical symptoms or signs. Patients with combined heterozygosity for galactosemia may develop cataracts and should be followed by clinical examinations.
R Pettersson; A Dahlqvist; G Hattevig; B Kjellman
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta paediatrica Scandinavica     Volume:  69     ISSN:  0001-656X     ISO Abbreviation:  Acta Paediatr Scand     Publication Date:  1980 Nov 
Date Detail:
Created Date:  1981-05-13     Completed Date:  1981-05-13     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0000211     Medline TA:  Acta Paediatr Scand     Country:  SWEDEN    
Other Details:
Languages:  eng     Pagination:  735-9     Citation Subset:  IM    
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MeSH Terms
Child, Preschool
Galactokinase / metabolism
Galactosemias / enzymology,  genetics*
Lactose Tolerance Test
Racemases and Epimerases / metabolism
UDPglucose-Hexose-1-Phosphate Uridylyltransferase / metabolism
Reg. No./Substance:
EC; EC Uridylyltransferase; EC 5.1.-/Racemases and Epimerases

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