Glycerol kinase deficiency in two brothers with and without clinical manifestations
| Autor: | M von Zweigbergk, L Gustafsson, C Hellerud, Blomquist Hk, Gösta Holmgren, Niklas Dahl, L Matsson, E Holme |
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| Rok vydání: | 1996 |
| Předmět: |
Child abuse
Male medicine.medical_specialty Glycerol kinase Prenatal diagnosis Pregnancy Internal medicine Glycerol Kinase Intellectual Disability Prenatal Diagnosis Genetics medicine Humans Abnormalities Multiple Child Genetics (clinical) Growth Disorders Neurologic Examination Fetus biology Hypophosphatasia Glycerol kinase deficiency medicine.disease Pedigree Ophthalmology Endocrinology medicine.anatomical_structure biology.protein Chorionic villi Female |
| Zdroj: | Clinical genetics. 50(5) |
| ISSN: | 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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