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Glycerol kinase deficiency in two brothers with and without clinical manifestations.

Artikel i vetenskaplig tidskrift
Författare H K Blomquist
N Dahl
L Gustafsson
Christina Hellerud
Elisabeth Holme
G Holmgren
L Matsson
M von Zweigbergk
Publicerad i Clinical genetics
Volym 50
Nummer/häfte 5
Sidor 375-9
ISSN 0009-9163
Publiceringsår 1996
Publicerad vid Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin
Sidor 375-9
Språk en
Länkar www.ncbi.nlm.nih.gov/entrez/query.f...
Ämnesord Abnormalities, Multiple, enzymology, genetics, physiopathology, Child, Female, Glycerol Kinase, deficiency, genetics, Growth Disorders, enzymology, genetics, physiopathology, Humans, Male, Mental Retardation, enzymology, genetics, physiopathology, Neurologic Examination, Ophthalmology, Pedigree, Pregnancy, Prenatal Diagnosis
Ämneskategorier Medicinsk genetik, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)

Sammanfattning

We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.

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