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  • Title: An unusual form of galactosemia: studies on erythrocytes and hair roots.
    Author: de Bruyn CH, Oei TL, Monnens LA, Trijbels JM.
    Journal: Clin Genet; 1978 Jan; 13(1):8-16. PubMed ID: 203421.
    Abstract:
    An unusual form of galactosemia is described in a 7-month-old boy, characterized by a late onset of the clinical symptoms. A high apparent residual activity of erythrocyte galactose-1-phosphate uridyl transferase (GT) was measured with the spectrophotometric UDP-Glucose consumption test(+/-25% of normal). The residual activity in erythrocyte lysates, determined when the patient was 7, 16 and 22 months old, significantly decreased upon storage and after preincubation with NAD-ase. The radiochemical measurement of GT activity demonstrated a severe deficiency: only a level of +/-1% of normal activity was observed, and no effects of storage or NAD-ase could be demonstrated. GT and galactokinase (GK) activities were measured radiochemically in lysates from hair roots obtained from the human scalp, and it was found that the GT/GK activity ratio is a useful index for the detection of heterozygotes. Erythrocyte and hair root lysates from the heterozygous parents of the patient displayed GT/GK ratios which were intermediate between mutant and normal. Because they offer a simple and fast way to obtain biopsy material, hair roots might become of increasing importance for carrier detection studies.
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