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neutral lipid storage disease with myopathy (neutral lipid storage disease without ichthyosis)
Pathology:
- presence of triglyceride-containing cytoplasmic droplets in leukocytes & in other tissues, including bone marrow, skin, & muscle
- defect in triglyceride degradation in fibroblast
- defect in triglyceride storage in liver, muscles, & other visceral cells
Genetics:
- associated with defects in PNPLA2 gene
Clinical manifestations:
- not associated with obesity, in spite of a defect in triglyceride metabolism
General
lipid metabolism, inborn error; lipid storage disease; lipidosis