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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
phenylketonuria
Summary
- Synonym
-
- Folling's disease
- PKU
- maternal phenylketonuria
- phenylalaninemia
- Definition
- An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
- Super Class
- amino acid metabolic disorder
External Links
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 847 | CAT | catalase | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 4967 | OGDH | oxoglutarate dehydrogenase | |
| 5019 | OXCT1 | 3-oxoacid CoA-transferase 1 | |
| 5236 | PGM1 | phosphoglucomutase 1 |
Related Glycoprotein
