carbohydrate metabolic disorder +
amino acid metabolic disorder +

2-aminoadipic 2-oxoadipic aciduria
2-hydroxyglutaric aciduria +
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
adenylosuccinase lyase deficiency
alkaptonuria
argininosuccinic aciduria
beta-ketothiolase deficiency
branched-chain keto acid dehydrogenase kinase deficiency
Brunner Syndrome
cerebral creatine deficiency syndrome +
congenital disorder of deglycosylation +
congenital disorder of glycosylation +
congenital glutamine deficiency
congenital lactase deficiency
congenital sucrase-isomaltase deficiency
cystathioninuria
cystinuria
developmental and epileptic encephalopathy 116
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
essential fructosuria
familial hypertryptophanemia
fructose-1,6-bisphosphatase deficiency
fumarase deficiency
galactosemia +
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
glucose metabolism disease +
glucosephosphate dehydrogenase deficiency +
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
glycine encephalopathy +
glycogen metabolism disorder +
Hartnup disease
hawkinsinuria
hereditary fructose intolerance syndrome
histidine metabolism disease +
HMG-CoA synthase 2 deficiency
homocystinuria
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hydroxykynureninuria
hyperhomocysteinemia
hyperlysinemia
hypermethioninemia +
hyperprolinemia +
hypervalinemia and hyperleucine-isoleucinemia
intestinal disaccharidase deficiency
lactose intolerance
leucine-sensitive hypoglycemia of infancy
lysinuric protein intolerance
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with spastic paraplegia and microcephaly
organic acidemia +
ornithine translocase deficiency
oxoglutarate dehydrogenase deficiency
pentosuria
phenylketonuria
primary hyperoxaluria +
prolidase deficiency
pyruvate carboxylase deficiency disease
pyruvate decarboxylase deficiency
sarcosinemia
serine deficiency +
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
tyrosinemia +
urea cycle disorder +

biotinidase deficiency
holocarboxylase synthetase deficiency