Abstract
Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. However, the frequency of these LSMs has not been determined. We found mutations in only 9 of 37 LSM patients (24%): 3 in SLC22A5; 4 in MADD-associated genes; and 2 in PNPLA2. This low frequency suggests the existence of other causative genes. Muscle coenzyme Q(10) levels were normal or only mildly reduced in two MADD patients, indicating that ETFDH mutations may not always be associated with CoQ(10) deficiency. The 2 patients with PNPLA2 mutations had progressive, non-episodic muscle disease with rimmed vacuoles. This suggests there is a different pathomechanism from other LSMs.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aged
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Child
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Child, Preschool
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Chromatography, Thin Layer / methods
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DNA Mutational Analysis
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Death Domain Receptor Signaling Adaptor Proteins / genetics
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Female
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Guanine Nucleotide Exchange Factors / genetics
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Humans
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Infant
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Lipase / genetics
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Lipid Metabolism
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Lipid Metabolism Disorders / complications*
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Lipid Metabolism Disorders / genetics*
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Lipid Metabolism Disorders / pathology
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Male
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Microscopy, Electron, Transmission
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Middle Aged
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Muscle Fibers, Skeletal / pathology
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Muscle Fibers, Skeletal / ultrastructure
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscular Diseases / complications*
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Muscular Diseases / genetics*
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Mutation / genetics
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Organic Cation Transport Proteins / genetics
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Retrospective Studies
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Solute Carrier Family 22 Member 5
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Young Adult
Substances
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Death Domain Receptor Signaling Adaptor Proteins
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Guanine Nucleotide Exchange Factors
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MADD protein, human
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Organic Cation Transport Proteins
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SLC22A5 protein, human
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Solute Carrier Family 22 Member 5
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Lipase
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PNPLA2 protein, human