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.
Original language | English |
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Pages (from-to) | 21-24 |
Number of pages | 4 |
Journal | Journal of the Neurological Sciences |
Volume | 239 |
Issue number | 1 |
DOIs | |
Publication status | Published - Dec 15 2005 |
Keywords
- CPT deficiency
- Mitochondrial disorder
- Myoglobinuria
- RRFs
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology