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Carnitine-acylcarnitine translocase deficiency: case report and review of the literature |
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| Authors: | Rubio-Gozalbo M E Vos P Forget P Ph Van Der Meer S B Wanders R J A Waterham H R Bakker J A |
| Affiliation: | a Department of Pediatrics, University Hospital Maastricht, Heerlen, The Netherlands.b Department of Pediatrics, Atrium Medical Centre, Heerlen, The Netherlands.c Department of Clinical Chemistry, Laboratory for Genetic Metabolic Diseases, University of Amsterdam, The Netherlands.d Department of Biochemical Genetics, Stichting Klinische Genetica ZON, Maastricht, The Netherlands. |
| Abstract: | Aim : Carnitine-acylcarnitine translocase (CACT) deficiency is an inborn error of metabolism involving the mitochondrial beta-oxidation of long-chain fatty acids. The aim of this study was to report on a new case (neonatal phenotype) and review the literature data on 24 previously reported cases. Methods : Clinical data of the new case are described and compared with the previous reports. Results : The patient with a novel mutation had clinical features and biochemical findings similar to those of the other reported patients. Conclusion : CACT is an entity in which clinical encephalopathy, hepatomegaly and arrythmias are common. Hyperammonaemia and elevation of creatine kinase seem to be constant findings as in other disorders of mitochondrial beta-oxidation of long-chain fatty acids. The mortality rate is very high. |
| Keywords: | Carnitine-acylcarnitine Translocase Deficiency Mitochondrial Fatty-acid Oxidation |
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