| | Disease name | Disease category |
PDH E1-alpha deficiency | H01997 | Pyruvate dehydrogenase E1-alpha deficiency | Inherited metabolic disorder |
PDH E1-beta deficiency | H01998 | Pyruvate dehydrogenase E1-beta deficiency | Inherited metabolic disorder |
PDH E2 deficiency | H01999 | Pyruvate dehydrogenase E2 deficiency | Inherited metabolic disorder |
KGDHC deficiency | H02006 | Alpha-ketoglutarate dehydrogenase complex deficiency | Inherited metabolic disorder, Mitochondrial disease |
YOBELN | H02562 | Yoon-Bellen neurodevelopmental syndrome | Inherited metabolic disorder, Mitochondrial disease |
DLD deficiency | H02000 | Dihydrolipoamide dehydrogenase deficiency | Inherited metabolic disorder |
ICRD | H02113 | Infantile cerebellar-retinal degeneration | Inherited metabolic disorder |
D-2-HGA | H01225 | D-2-hydroxyglutaric aciduria | Inherited metabolic disorder |
SDH deficiency | H02005 | Mitochondrial complex II deficiency | Inherited metabolic disorder, Mitochondrial disease |
FH deficiency | H02004 | Fumarase deficiency | Inherited metabolic disorder |
PK deficiency | H01096 | Pyruvate kinase deficiency | Inherited metabolic disorder |
PC deficiency | H00073 | Pyruvate carboxylase deficiency | Inherited metabolic disorder |
PCKD | H02520 | Phosphoenolpyruvate carboxykinase deficiency | Inherited metabolic disorder |