| Borderline galactosemia. | |
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MedLine Citation:
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PMID: 7211358 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R Pettersson; A Dahlqvist; G Hattevig; B Kjellman |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta paediatrica Scandinavica Volume: 69 ISSN: 0001-656X ISO Abbreviation: Acta Paediatr Scand Publication Date: 1980 Nov |
Date Detail:
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Created Date: 1981-05-13 Completed Date: 1981-05-13 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0000211 Medline TA: Acta Paediatr Scand Country: SWEDEN |
Other Details:
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Languages: eng Pagination: 735-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child, Preschool Female Galactokinase / metabolism Galactosemias / enzymology, genetics* Heterozygote Humans Lactose Tolerance Test Male Pedigree Racemases and Epimerases / metabolism UDPglucose-Hexose-1-Phosphate Uridylyltransferase / metabolism |
| Chemical | |
Reg. No./Substance:
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EC 2.7.1.6/Galactokinase; EC 2.7.7.12/UDPglucose-Hexose-1-Phosphate Uridylyltransferase; EC 5.1.-/Racemases and Epimerases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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