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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Acute Kidney Injury / etiology
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Acute Kidney Injury / physiopathology
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Base Sequence / genetics
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Biopsy
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Carnitine O-Palmitoyltransferase / deficiency*
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Carnitine O-Palmitoyltransferase / genetics
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Creatine Kinase / blood
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DNA Mutational Analysis
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DNA, Mitochondrial / genetics*
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Humans
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Male
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Middle Aged
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Mitochondrial Diseases / enzymology*
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Mitochondrial Diseases / genetics*
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Mitochondrial Diseases / physiopathology
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Muscle Fibers, Skeletal / enzymology
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Muscle Fibers, Skeletal / pathology
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Muscle Weakness / enzymology
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Muscle Weakness / genetics
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Muscle Weakness / physiopathology
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Diseases / complications
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Muscular Diseases / enzymology*
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Muscular Diseases / physiopathology
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Myoglobinuria / etiology
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Myoglobinuria / physiopathology
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Point Mutation / genetics*
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Syndrome
Substances
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DNA, Mitochondrial
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Carnitine O-Palmitoyltransferase
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Creatine Kinase