title: Subacute necrotizing encephalomyelopathy (Leigh's disease): detection of the heterozygous carrier state.
mesh_terms: D001933:Brain Stem / Q000201:enzymology* / Q000378:metabolism; D004678:Encephalomalacia / Q000201:enzymology / Q000235:genetics / Q000378:metabolism / Q000652:urine*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism / Q000652:urine; D010770:Phosphotransferases / Q000378:metabolism; D011596:Psychomotor Disorders / Q000235:genetics / Q000378:metabolism / Q000652:urine; D013577:Syndrome / Q000235:genetics / Q000378:metabolism / Q000652:urine; D013835:Thiamine Pyrophosphate / Q000378:metabolism
chemical_list: D010770:Phosphotransferases; D013835:Thiamine Pyrophosphate