| | |  | | | | Record from Web of Science® | | | | | | |
| CHONDRODYSPLASIA PUNCTATA WITH A MILD CLINICAL COURSE |
|
|
| Author(s): NUOFFER JM, PFAMMATTER JP, SPAHR A, TOPLAK H, WANDERS RJA, SCHUTGENS RBH, WIESMANN UN |
| Source: JOURNAL OF INHERITED METABOLIC DISEASE Volume: 17 Issue: 1 Pages: 60-66 Published: 1994 |
| Times Cited: 9 References: 22 |
| Abstract: We report a 7-year-old patient with chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems. De novo plasmalogen synthesis in fibroblasts was greatly reduced and DHAP-AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA-DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5-fold. The patient represents a mild clinical course of chondrodysplasia punctata, resembling Conradi-Hunermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic chondrodysplasia punctata except for a high residual activity of DHAP-AT. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV HOSP BERN, DEPT PEDIAT, CH-3010 BERN, SWITZERLAND
2. DIST HOSP, DEPT PEDIAT, SION, SWITZERLAND
3. UNIV HOSP AMSTERDAM, DEPT PEDIAT, DIV PEDIAT CLIN CHEM, AMSTERDAM, NETHERLANDS |
| Publisher: KLUWER ACADEMIC PUBL, SPUIBOULEVARD 50, PO BOX 17, 3300 AA DORDRECHT, NETHERLANDS |
| Subject Category: Endocrinology & Metabolism; Genetics & Heredity |
| IDS Number: NG330 |
| ISSN: 0141-8955 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |