A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy / M. Sciacco, A. Prelle, G. Fagiolari, A. Bordoni, M.Crimi, A. Di Fonzo, P. Ciscato, C. Lamperti, E. D'Adda, S. Jann, N. Bresolin, G.P. Comi, M. Moggio. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 239:1(2005), pp. 21-24.
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
A. Bordoni;M.Crimi;A. Di Fonzo;C. Lamperti;N. Bresolin;G.P. ComiPenultimo
;
2005
Abstract
A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.
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