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Specific
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
General
inborn error of metabolism