amino acid inborn error of metabolism
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More general terms
More specific terms
- 3-methylglutaconic aciduria
- alpha-methylacetoaceticaciduria; 3-ketoacyl CoA thiolase deficiency
- argininemia
- beta-ureidopropionase deficiency
- CPS1 deficiency
- cystathioninuria
- dicarboxylicamino aciduria; glutamate-aspartate transport defect
- formiminoglutamicaciduria; glutamate formiminotransferase deficiency
- glutaric aciduria
- hyperalaninemia
- hyperhomocysteinemia
- hypermethioninemia
- indicanuria (blue diaper syndrome)
- isobutyryl-CoA dehydrogenase deficiency
- L-2-hydroxyglutaricaciduria
- lysinuric protein intolerance
- maple syrup urine disease; branched-chain ketoaciduria
- methacrylic aciduria; beta-hydroxyisobutyryl CoA deacylase (HIBCH) deficiency
- methylcrotonoyl-CoA carboxylase deficiency
- methylglutaconyl-CoA hydratase deficiency; methylglutaconic aciduria
- methylmalonate semialdehyde dehydrogenase deficiency
- non-ketotic hyperglycinemia (glycine encephalopathy)
- phenylketonuria (PKU)
- phosphoserine aminotransferase deficiency
- tyrosinemia