Myopathic disorder associated with mitochondrial abnormalities, hyperglycaemia, and hyperketonaemia.
D000090:Acetoacetates / Q000097:blood; D000367:Age Factors; D001786:Blood Glucose / Q000032:analysis; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003594:Cytoplasmic Granules; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005990:Glycerol / Q000097:blood; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood; D006943:Hyperglycemia / Q000150:complications* / Q000209:etiology; D007223:Infant; D007328:Insulin / Q000097:blood; D007657:Ketone Bodies / Q000097:blood*; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010375:Pedigree
D000090:Acetoacetates; D001786:Blood Glucose; D005227:Fatty Acids; D006885:Hydroxybutyrates; D007328:Insulin; D007657:Ketone Bodies; D003402:Creatine Kinase; D005990:Glycerol