inborn errors of metabolism
MONDO:0019052Mondo
Findings
No curated finding names inborn errors of metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
Definition from the Mondo Disease Ontology (MONDO:0019052), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (94)
- 2-hydroxyglutaric aciduria
- abdominal obesity-metabolic syndrome
- achondrogenesis type IB
- apolipoprotein c-III deficiency
- aromatase excess syndrome
- atelosteogenesis type II
- autosomal dominant myoglobinuria
- autosomal dominant proximal renal tubular acidosis
- autosomal recessive proximal renal tubular acidosis
- chondrocalcinosis 2
- chondrodysplasia with joint dislocations, gPAPP type
- congenital disorder of glycosylation
- congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- diabetes mellitus, noninsulin-dependent, 1
- diabetes mellitus, noninsulin-dependent, 2
- diabetes mellitus, noninsulin-dependent, 3
- diabetes mellitus, noninsulin-dependent, 4
- diabetes mellitus, noninsulin-dependent, 5
- diastrophic dysplasia
- disorder of lysosomal-related organelles
- disorder of metabolite absorption and transport
- Ehlers-Danlos syndrome, spondylodysplastic type
- familial hypocalciuric hypercalcemia
- familial hypoparathyroidism
- familial intrahepatic cholestasis
- ferro-cerebro-cutaneous syndrome
- fish eye disease
- gluthathione peroxidase deficiency
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hereditary amyloidosis
- hypercalcemia, infantile
- hypercholesterolemia, familial, 4
- hypermanganesemia with dystonia
- hypertriglyceridemia 1
- hypoalphalipoproteinemia, primary, 1
- hypophosphatasia
- hypotonia-failure to thrive-microcephaly syndrome
- inborn aminoacylase deficiency
- inborn carbohydrate metabolic disorder
- inborn disorder of amino acid and other organic acid metabolism
- inborn disorder of biogenic amine metabolism and transport
- inborn disorder of energy metabolism
- inborn disorder of porphyrin metabolism
- inborn disorder of purine or pyrimidine metabolism
- inborn glycerol kinase deficiency
- inborn metal metabolism disorder
- inborn vitamin metabolic disorder
- inherited lipid metabolism disorder
- inherited threoninemia
- lysosomal storage disease
- monogenic diabetes
- multiple epiphyseal dysplasia type 4
- neurodegeneration with brain iron accumulation
- normophosphatemic familial tumoral calcinosis
- peroxisomal disease
- plasma protein metabolism disease
- renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
- spondyloepiphyseal dysplasia with congenital joint dislocations
- striatonigral degeneration
- thiopurine metabolic disease
- and 34 more
Other names
9 names
Resolves to: inborn errors of metabolism
- Also called
- congenital metabolic disordercongenital metabolism disorderhereditary metabolic diseaseinborn disorders of metabolisminborn error of metabolisminborn metabolic disorderinherited disorder of metabolisminherited disorders of metabolisminherited metabolic disorder