title: Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
abstract: Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase deficiency. Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain.
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D001706:Biopsy; D004576:Electromyography; D005146:Facial Asymmetry / Q000201:enzymology; D005158:Facial Paralysis / Q000201:enzymology; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009133:Muscular Atrophy / Q000201:enzymology; D009468:Neuromuscular Diseases / Q000201:enzymology* / Q000473:pathology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D005082:Physical Exertion
chemical_list: D009709:Nucleotide Deaminases; D000659:AMP Deaminase