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| Gene symbol | Defective enzyme name | Disease |
|
| ABCC8 | ATP-binding cassette, subfamily C (CFTR/MRP), member 8 | Hypoglcemia |
| ACY1 | Aminoacylase1 | Aminoacylase1 deficiency |
| ADSL | Adenylosuccinate lyase | Adenylosuccinase deficiency |
| AGA | Aspartylglucosaminidase | Aspartylglucosaminuria |
| ALDH4A1 | Aldehyde dehydrogenase 4 family, member A1 | Hyperprolinemia |
| ALDH5A1 | Aldehyde dehydrogenase 5 family, member A1 | Succinic Semialdehyde dehydrogenase deficiency |
| ALDH7A1 | Aldehyde dehydrogenase 7 family, member A1 | Pyridoxine deficiency |
| ARG1 | Liver arginase | Argininemia |
| ARSA | Arylsulfatase A | Metachromatic leukoodystrophy |
| ASPA | Aspartoacylase | Canavan disease |
| ATIC | 5-aminoimidazole-4-carboxamide ribonucleotide (AICAr) formyltransferase/IMP cyclohydrolase | AICAr transformylase/IMP cyclohydrolase deficiency (ATIC Deficiency) |
| BTD | Biotinidase | Biotinidase deficiency |
| CPT2 | Carnitine palmitoyltransferase 2 | Carnitine palmitoyltransferase II deficiency |
| CTSA | Cathepsin A | Galactosialidosis |
| DPYD | Dihydropyrimidine dehydrogenase | Dihydropyrimidine dehydrogenase deficiency |
| ETFA | Electron-transfer-flavoprotein, alpha polypeptide | Glutaraciduria |
| ETFB | Electron-transfer-flavoprotein, beta polypeptide | Glutaraciduria |
| ETFDH | Electron-transferring-flavoprotein dehydrogenase | Glutaraciduria |
| FH | Fumarate hydratase | Fumarase deficiency |
| FOLR1 | Folate receptor 1 (adult) | Cerebral folate transport deficiency |
| FUCA1 | Fucosidase, alpha-L- 1, tissue | Fucosidosis |
| GALC | Galactosylceramidase | Krabbe disease |
| GAMT | Guanidinoacetate N-methyltransferase | Guanidinoacetate N-methyltransferase deficiency |
| GCDH | Glutaryl-CoA dehydrogenase | Glutaraciduria |
| GCSH | Glycine cleavage system protein H (aminomethyl carrier) | Glycine encephalopathy |
| GCST | Glycine cleavage system protein T (aminomethyltransferase) | Glycine encephalopathy |
| GLB1 | Galactosidase, beta 1 | Gangliosidosis |
| GLDC | Glycine dehydrogenase (decarboxylating) | Glycine encephalopathy |
| GNE | Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sialuria |
| HEXA | Hexosaminidase A (alpha polypeptide) | Gangliosidosis |
| HEXB | Hexosaminidase B (beta polypeptide) | Gangliosidosis |
| HPD | 4-Hydroxyphenylpyruvate dioxygenase | Tyrosinemia |
| L2HGDH | L-2-Hydroxyglutarate dehydrogenase | L-2-Hydroxyglutaric aciduria |
| LAMA2 | Laminin, alpha 2 | Muscular dystrophy |
| MOCS1 | Molybdenum cofactor synthesis 1 | Molybdene cofactor deficiency |
| MOCS2 | Molybdenum cofactor synthesis 2 | Molybdene cofactor deficiency |
| NEU1 | Sialidase 1 (lysosomal sialidase) | Neuraminidase deficiency |
| NPC1 | Niemann-Pick disease, type C1 | Niemann-Pick disease |
| NPC2 | Niemann-Pick disease, type C2 | Niemann-Pick disease |
| PGK1 | Phosphoglycerate kinase 1 | GAMT deficiency |
| PRODH | Proline dehydrogenase (oxidase) 1 | Hyperprolinemia |
| PSAP | Prosaposin | Krabbe disease |
| QDPR | Quinoid dihydropteridine reductase | Hyperphenylalaninemia |
| SLC17A5 | Solute carrier family 17 (anion/sugar transporter), member 5 | Sialuria |
| SLC25A15 | Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 | Ornithine translocase deficiency |
| SLC46A1 | Solute carrier family 46 (folate transporter), member 1 | Folate malabsorption |
| SMPD1 | Sphingomyelin phosphodiesterase 1, acid lysosomal | Niemann pick disease |
| SUMF1 | Sulfatase modifying factor 1 | Sulfatidosis |
| SUOX | Sulfite oxidase | Sulfitoxidasis |
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