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2.
Tijdschr Kindergeneeskd ; 61(5): 188-90, 1993 Oct.
Article in Dutch | MEDLINE | ID: mdl-8266315

ABSTRACT

The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However, after the patient was on a galactose-free diet, there was no demonstrable elevation of galactose-1-phosphate in the erythrocytes. We would advocate a limited screening on galactosemia.


Subject(s)
Galactosemias/enzymology , Intellectual Disability/enzymology , UTP-Hexose-1-Phosphate Uridylyltransferase/blood , Adult , Erythrocytes/enzymology , Galactosemias/complications , Humans , Male
3.
Tijdschr Kindergeneeskd ; 53(5): 190-3, 1985 Oct.
Article in Dutch | MEDLINE | ID: mdl-3937290

ABSTRACT

A 9 weeks old boy with infantile globoid cell leukodystrophy is presented. Clinical features consisted of insufficient weight gain, hypertonic musculature, irritability, loss of previously attained skills, loss of visual function, elevation of the cerebrospinal fluid (CSF) protein. He died at the age of 11 months. First-trimester diagnosis was performed in two consecutive pregnancies by means of analysis of chorionic villi in the 9th week.


Subject(s)
Chorionic Villi/analysis , Leukodystrophy, Globoid Cell/diagnosis , Prenatal Diagnosis , Chorionic Villi/enzymology , Humans , Infant , Leukodystrophy, Globoid Cell/physiopathology , Male , beta-Galactosidase/analysis , beta-Galactosidase/deficiency
5.
Clin Chim Acta ; 141(2-3): 227-34, 1984 Aug 31.
Article in English | MEDLINE | ID: mdl-6488556

ABSTRACT

Three unrelated patients with excessive thymine-uraciluria due to dihydropyrimidine dehydrogenase deficiency are described. Excretory values (mmol/g creatinine) were: uracil 2.0-10.5, thymine 2.3-7.5, 5-hydroxymethyluracil 0.2-0.9. Orally administered (index patient) uracil and thymine were excreted for the greater part whilst dihydrouracil and S-dihydrothymine were mainly metabolised. Dihydropyrimidine dehydrogenase activities (nmol X h-1 X mg-1 protein) in leucocytes were 0.04, 0.01 and less than 0.01 in the patients, 0.31-1.66 in their parents, and 1.01-4.46 in controls (n = 4). The patients presented with a non-specific clinical picture of cerebral dysfunction.


Subject(s)
Oxidoreductases/deficiency , Purine-Pyrimidine Metabolism, Inborn Errors/enzymology , Thymine/urine , Uracil/urine , Adolescent , Child , Child, Preschool , Chromatography, Thin Layer , Dihydrouracil Dehydrogenase (NADP) , Female , Humans , Leukocytes/enzymology , Male , Mass Spectrometry , Pentoxyl/analogs & derivatives , Pentoxyl/urine , Purine-Pyrimidine Metabolism, Inborn Errors/urine
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