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Gene symbol | Defective enzyme name | Disease |
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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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