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Neutral Lipid Storage Disease with myopathy - PNPLA2, ETFDH, CPT2

PNPLA2

Clinical Features

Neutral lipid storage disorders (NLSDs) are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Patients showed multisystem triglyceride storage and myopathy, inconstantly associated with delays in walking, variable cardiac abnormalities, and hepatomegaly. Occasionally diabetes or cardiovascular complications may be present. Notably, the individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells.

Genetic Information

Neutral lipid storage disease without ichthyosis but with mild myopathy is caused by mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL).

Prevalence

not known

Diagnostic