Subacute necrotising encephalomyelopathy in three siblings.
D000367:Age Factors; D000409:Alanine / Q000097:blood / Q000652:urine; D001921:Brain / Q000473:pathology; D001933:Brain Stem; D002675:Child, Preschool; D004678:Encephalomalacia / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005943:Gluconeogenesis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007773:Lactates / Q000097:blood; D008661:Metabolism, Inborn Errors / Q000150:complications*; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000209:etiology; D011766:Pyruvate Carboxylase / Q000032:analysis / Q000502:physiology; D011773:Pyruvates / Q000097:blood / Q000378:metabolism; D013831:Thiamine / Q000037:antagonists & inhibitors / Q000502:physiology / Q000627:therapeutic use; D013832:Thiamine Deficiency / Q000150:complications
D007773:Lactates; D011773:Pyruvates; D011766:Pyruvate Carboxylase; D000409:Alanine; D013831:Thiamine