Neurometabolic disease

Wilson disease Tangier disease encephalopathy due to GLUT1 deficiency neurodegeneration with brain iron accumulation infantile cerebellar-retinal degeneration glutaric aciduria type 1 Sjogren-Larsson syndrome Canavan disease Kearns-Sayre syndrome MELAS syndrome familial isolated deficiency of vitamin E aromatic L-amino acid decarboxylase deficiency dopamine-responsive dystonia pyridoxine-dependent epilepsy McLeod syndrome