inherited metabolic disorder +

aceruloplasminemia
amino acid metabolic disorder +
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 +
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

adult-onset ataxia and polyneuropathy
coenzyme Q10 deficiency disease +
combined oxidative phosphorylation deficiency +
cytochrome-c oxidase deficiency disease +
deafness-dystonia-optic neuronopathy syndrome
ethylmalonic encephalopathy
GRACILE syndrome
mitochondrial complex I deficiency +
mitochondrial complex II deficiency
mitochondrial complex III deficiency +
mitochondrial complex V (ATP synthase) deficiency +
mitochondrial DNA depletion syndrome +
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
multiple mitochondrial dysfunctions syndrome +
NARP syndrome
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
Pearson syndrome
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis