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 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