| Disorders |
- 2,4-Dienoyl-CoA Reductase Deficiency (DECRD)
- 3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH)
- 3-Methylglutaconic Aciduria Type VII (MGCA7)
- Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)
- Alpha-Methylacyl-CoA Racemase Deficiency
- Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N)
- Benign Recurrent Intrahepatic Cholestasis-2 (BRIC2)
- Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
- Cerebral Creatine Deficiency Syndrome-1 (CCDS1)
- Combined D-2- and L-2-Hydroxyglutaric Aciduria
- Congenital Disorder of Glycosylation
- Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD)
- Fanconi-Bickel Syndrome
- Glutathione Synthetase Deficiency (GSSD)
- Glycogen Storage Disease 0, Muscle (GSD0B)
- Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb
- Glycogen Storage Disease IV
- Glycogen Storage Disease IXc (GSD9C)
- Glycogen Storage Disease IXd (GDS9D)
- Glycogen Storage Disease Type IXa
- Glycogen Storage Disease Type IXb (GSD9B)
- Glycogen Storage Disease VII (GSD7)
- Glycogen Storage Disease X (GSD10)
- Glycogen Storage Disease XI (GSD11)
- Glycogen Storage Disease XII (GSD12)
- Glycogen Storage Disease XIII (GSD13)
- Glycogen Storage Disease XV (GSD15)
- Hereditary Fructose Intolerance
- Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD)
- Intrahepatic Cholestasis of Pregnancy
- Lipoyltransferase 1 Deficiency (LIPT1)
- Methylmalonic Acidemia and Hyperhomocysteinemia, cblX Type
- Methylmalonic Aciduria and Homocystinuria, cblJ Type
- Mitochondrial DNA Depletion Syndrome
- Mitochondrial DNA Multiple Deletions
- Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
- Multiple Mitochondrial Dysfunctions Syndrome
- Nephrotic Syndrome Type 9 (NPHS9)
- Oxidative Phosphorylation (OXPHOS) Deficiency
- Perrault Syndrome 4 (PRLTS4)
- Primary Coenzyme Q10 Deficiency
- Progressive Familial Intrahepatic Cholestasis
- Progressive Familial Intrahepatic Cholestasis-2 (PFIC2)
- Pyridoxine-Refractory Sideroblastic Anemia
- Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive
- Spastic Paraplegia 28 (SPG28)
- Spastic Paraplegia 4 (SPG4)
- Spastic Paraplegia 43 (SPG43)
- Spastic Paraplegia 54 (SPG54)
- Spastic Paraplegia 74 (SPG74)
- Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)
- Wilson Disease
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