A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
D000138:Acidosis / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D000409:Alanine / Q000097:blood / Q000652:urine; D002648:Child; D002854:Chromatography, Paper; D003638:Deafness / Q000150:complications* / Q000235:genetics; D004576:Electromyography; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006801:Humans; D007773:Lactates / Q000097:blood / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008931:Mitochondria, Muscle; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D009431:Neural Conduction; D011773:Pyruvates / Q000097:blood
D007773:Lactates; D011773:Pyruvates; D000409:Alanine