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inherited metabolic disorder
Summary
- Synonym
-
- Inborn Errors of Metabolism
- Metabolic hereditary disorder
- inborn metabolism disorder
- Definition
- A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
- Super Class
- disease of metabolism genetic disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 38 | ACAT1 | acetyl-CoA acetyltransferase 1 | |
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 412 | STS | steroid sulfatase | |
| 1120 | CHKB | choline kinase beta | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 1890 | TYMP | thymidine phosphorylase | |
| 1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) |
Related Glycoprotein
