Term Name: inherited metabolic disorder
Synonyms: Inborn Errors of Metabolism, inborn metabolism disorder, Metabolic hereditary disorder
Definition: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Ontology: Human Disease [DOID:655]   ( DOID:655 )

Relationships
is a type of: disease of metabolism genetic disease
has subtype: 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 glycerol kinase deficiency Gordon Holmes syndrome Greenberg dysplasia hereditary systemic amyloidosis 1 hereditary systemic amyloidosis 2 HRPT-related hyperuricemia hyperphosphatemic familial tumoral calcinosis immunoglobulin light chain amyloidosis infantile hypercalcemia 1 infantile hypercalcemia 2 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 trimethylaminuria variant ABeta2M amyloidosis vitamin metabolic disorder warfarin resistance warfarin sensitivity X-linked warfarin sensitivity