inherited metabolic disorder

Term ID

DOID:655

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. (2)

References

MESH:D008661
NCI:C34816
SNOMEDCT_US_2023_03_01:86095007
UMLS_CUI:C0025521

Ontology

Human Disease ( DOID:655 )

Relationships

is a type of: disease of metabolism genetic disease

disease of metabolism genetic disease Show first 5 Terms
has subtype: aceruloplasminemia amino acid metabolic disorder aromatic L-amino acid decarboxylase deficiency bilirubin metabolic disorder carbohydrate metabolic disorder ... Show All 38 Terms

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 porphyria primary cutaneous amyloidosis purine-pyrimidine metabolic disorder pyrimidine metabolic disorder thiopurine S-methyltransferase deficiency transthyretin amyloidosis trimethylaminuria variant ABeta2M amyloidosis vitamin metabolic disorder warfarin resistance warfarin sensitivity X-linked warfarin sensitivity Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations