Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithinaemia-clues to pathogenesis
| Autor: | Anu Alanen, Minna Erkintalo, K. Heinanen, Olli J. Heinonen, Kirsti Näntö-Salonen, Eeva Nikoskelainen, Kari Pulkki, Olli Simell, M. Valtonen, Markku Komu |
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| Rok vydání: | 1999 |
| Předmět: |
medicine.medical_specialty
Creatinine Clinical Biochemistry Skeletal muscle General Medicine Fundus (eye) Biology medicine.disease Creatine Biochemistry Pathogenesis chemistry.chemical_compound Atrophy medicine.anatomical_structure Endocrinology chemistry Internal medicine Retinitis pigmentosa medicine Choroid |
| Zdroj: | European Journal of Clinical Investigation. 29:426-431 |
| ISSN: | 0014-2972 |
| DOI: | 10.1046/j.1365-2362.1999.00467.x |
| Popis: | Background In gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), inherited deficiency of ornithine-δ-aminotransferase leads to progressive fundus destruction and atrophy of type II skeletal muscle fibres. Because high ornithine concentrations inhibit creatine biosynthesis, the ensuing deficiency of high-energy creatine phosphate may mediate the pathogenesis. Materials and methods Relative concentrations of inorganic phosphate (Pi), creatine phosphate (PCr) and ATP in resting calf muscle were recorded in 23 GA patients and 33 control subjects using 31P-magnetic resonance spectroscopy (MRS). Eight patients with autosomal recessive retinitis pigmentosa with matched control subjects constituted an additional reference group. Results The PCr/Pi and PCr/ATP ratios (means ± SD) were lower for the GA patients than for healthy control subjects [4.66 ± 0.37 vs. 9.75 ± 2.17 (P |
| Databáze: | OpenAIRE |
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