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3-Phosphoglycerate dehydrogenase deficiency | Hereditary thymine-uraciluria |
Abetalipoproteinemia | Homocystinuria |
Alkaptonuria | Hurler syndrome (mucopolysaccharidosis type 1) |
Alpha-mannosidosis | Hypophosphatasia |
Aspartylglucosaminuria | Isovaleric acidemia |
Biotinidase deficiency | Krabbe disease |
Canavan disease | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
Carnitine palmitoyltransferase IA deficiency | Maple syrup urine disease |
Carnitine palmitoyltransferase II deficiency | Medium chain acyl-CoA dehydrogenase deficiency |
Classic citrullinemia | Metachromatic leukodystrophy |
CLN3-related neuronal ceroid lipofuscinosis | Mucolipidosis IV |
CLN5-related neuronal ceroid lipofuscinosis | Multiple sulfatase deficiency |
Congenital disorder of glycosylation, type Ia | Niemann-Pick disease type C |
Congenital disorder of glycosylation, type Ib | PEX1-related Zellweger syndrome spectrum |
Cystinosis | Phenylalanine hydroxylase deficiency |
D-bifunctional protein deficiency | Pompe disease |
Dihydrolipoamide dehydrogenase deficiency | PPT1-related neuronal ceroid lipofuscinosis |
Galactosemia | Primary carnitine deficiency |
Gaucher disease | Primary hyperoxaluria type 1 |
Glutaric acidemia type Ia | Primary hyperoxaluria type 2 |
Glycogen storage disease type 1a | Pycnodysostosis |
Glycogen storage disease type 3 | Rhizomelic chondrodysplasia punctata type 1 |
Glycogen storage disease type V | Salla disease |
Hereditary fructose intolerance | Segawa syndrome |
Tay-Sachs disease | Short chain acyl-CoA dehydrogenase deficiency |
TPP1-related neuronal ceroid lipofuscinosis | Smith-Lemli-Opitz syndrome |
Type I tyrosinemia | Wilson disease |
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