inherited metabolic disorder +

aceruloplasminemia
aromatic L-amino acid decarboxylase deficiency
bilirubin metabolic disorder +
carbohydrate metabolic disorder +
cerebral amyloid angiopathy +
D-glyceric aciduria
dopamine beta-hydroxylase deficiency
familial hypocalciuric hypercalcemia +
familial visceral amyloidosis
glycerol kinase deficiency
Gordon Holmes syndrome
Greenberg dysplasia
HRPT-related hyperuricemia
hyperphosphatemic familial tumoral calcinosis
immunoglobulin light chain amyloidosis
isolated elevated serum creatine phosphokinase levels
isolated sulfite oxidase deficiency
lipid metabolism disorder +
lysosomal storage disease +
metal metabolism disorder +
mitochondrial metabolism disease +
multiple acyl-CoA dehydrogenase deficiency
peroxisomal disease +
phosphoribosylpyrophosphate synthetase superactivity
plasma protein metabolism disease +
poor metabolism of thiopurines +
porphyria +
primary cutaneous amyloidosis +
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
transthyretin amyloidosis
trimethylaminuria
variant ABeta2M amyloidosis
vitamin metabolic disorder +
warfarin resistance
warfarin sensitivity
X-linked warfarin sensitivity

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 glutamine deficiency
cystathioninuria
cystinuria
developmental and epileptic encephalopathy 116
dicarboxylic aminoaciduria
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
familial hypertryptophanemia
fumarase deficiency
gamma-amino butyric acid metabolism disorder +
gamma-glutamyl transpeptidase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency +
glycine encephalopathy +
Hartnup disease
hawkinsinuria
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
leucine-sensitive hypoglycemia of infancy
lysinuric protein intolerance
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple carboxylase 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
prolidase deficiency
sarcosinemia
serine deficiency +
systemic primary carnitine deficiency disease
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia +
tyrosinemia +
urea cycle disorder +