| | Disease name | Disease category |
CDSP | H01589 | Systemic primary carnitine deficiency | Inherited metabolic disorder |
CACT deficiency | H01983 | Carnitine-acylcarnitine translocase deficiency | Inherited metabolic disorder |
CPT I deficiency | H01981 | Carnitine palmitoyltransferase I deficiency | Inherited metabolic disorder, Mitochondrial disease |
CPT II deficiency | H01982 | Carnitine palmitoyltransferase II deficiency | Inherited metabolic disorder, Mitochondrial disease |
MCAD deficiency | H00488 | MCAD deficiency | Inherited metabolic disorder, Mitochondrial disease |
VLCAD deficiency | H00392 | VLCAD deficiency | Inherited metabolic disorder |
SCAD deficiency | H01980 | SCAD deficiency | Inherited metabolic disorder, Mitochondrial disease |
ECHS1 deficiency | H00525 | Disorders of mitochondrial fatty-acid oxidation | Inherited metabolic disorder |
HADH deficiency | H01364 | 3-Hydroxyacyl-CoA dehydrogenase deficiency | Inherited metabolic disorder, Mitochondrial disease |
LCHAD deficiency | H00489 | LCHAD deficiency | Inherited metabolic disorder |
LCKAT deficiency | H01352 | Mitochondrial trifunctional protein deficiency | Inherited metabolic disorder, Mitochondrial disease |