Lipid storage myopathy in von Gierke's disease: a case report.
An 18-year-old girl with von Gierke's disease associated with a lipid storage myopathy is reported. The diagnosis of von Gierke's disease was made from decreased activity in glucose-6-phosphatase in the jejunal biopsy specimen. Neurologically she showed generalized hypotonia of the muscles, atrophy of bilateral proximal muscles of the lower extremities, weakness in neck flexors, deltoid and lumbar girdle muscles, and a positive Gower's sign. Muscle biopsy from flexor femoris muscle revealed fatty deposition in type 1 fibers and atrophy of type 2 fibers and the diagnosis of an accompanying lipid storage myopathy was made. This case also had a ventricular septal defect confirmed by right cardiac catheterization.
D000293:Adolescent; D000469:Alkaline Phosphatase / Q000097:blood; D001706:Biopsy; D001786:Blood Glucose / Q000378:metabolism; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005952:Glucose-6-Phosphatase / Q000097:blood; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D006949:Hyperlipidemias / Q000201:enzymology; D007413:Intestinal Mucosa / Q000473:pathology; D007583:Jejunum / Q000201:enzymology / Q000473:pathology; D007773:Lactates / Q000097:blood; D008055:Lipids / Q000097:blood*; D009123:Muscle Hypotonia / Q000201:enzymology*; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009133:Muscular Atrophy / Q000201:enzymology*
D001786:Blood Glucose; D007773:Lactates; D008055:Lipids; D003402:Creatine Kinase; D000469:Alkaline Phosphatase; D005952:Glucose-6-Phosphatase