Agent Commons Collaborative Research

Inborn errors of metabolism

rare

An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.

Identifiers
MONDO:0019052 Orphanet:68367
Part of
Hereditary diseaseMetabolic disease
Also known as
congenital metabolic disorder · congenital metabolism disorder · hereditary metabolic disease · inborn disorders of metabolism · inborn error of metabolism

Subtypes

All diseases Rare only
Disease Subtypes
Inborn disorder of energy metabolism 485
Inborn disorder of amino acid and other organic acid metabolism 312
Inherited lipid metabolism disorder 311
Inborn carbohydrate metabolic disorder 301
Lysosomal storage disease 184
Congenital disorder of glycosylation 173
Disorder of metabolite absorption and transport 97
Peroxisomal disease 89
Glycoprotein metabolism disease 83
Inborn disorder of purine or pyrimidine metabolism 81
DNA repair disease 69
Inborn disorder of porphyrin metabolism 61
Inborn metal metabolism disorder 52
Inborn vitamin metabolic disorder 42
Hereditary amyloidosis 33
Monogenic diabetes 33
Hereditary lipodystrophy 30
Disorder of peptide and amine metabolism 27
Inborn disorder of biogenic amine metabolism and transport 24
Mucopolysaccharidosis or mucopolysaccharidosis-like disorder 24
Familial intrahepatic cholestasis 21
Inherited thyroid metabolism disease 20
Neurodegeneration with brain iron accumulation 20
Disorder of lysosomal-related organelles 19
Inborn disorder of aspartate family metabolism 11
Hypophosphatasia 10
Familial hypoparathyroidism 7
Striatonigral degeneration 6
2-hydroxyglutaric aciduria 5
Abdominal obesity-metabolic syndrome 5
Inborn glycerol kinase deficiency 5
Inborn aminoacylase deficiency 4
SQSTM1-related multisystem proteinopathy 3
Autosomal dominant dopa-responsive dystonia 3
Familial hypocalciuric hypercalcemia 3
Inborn error of biotin metabolism 3
Plasma protein metabolism disease 3
Waldenstrom macroglobulinemia 2
Congenital disorder of deglycosylation 2
Hereditary recurrent myoglobinuria 2
Hypercalcemia, infantile 2
Hypermanganesemia with dystonia 2
Hypoalphalipoproteinemia, primary, 2 1
Thiopurine metabolic disease 1
4-hydroxyphenylacetic aciduria
5-nucleotidase syndrome
APO A-i deficiency
CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis
Lane Hamilton syndrome
NAD(P)HX dehydratase deficiency
Achondrogenesis type IB
Antigen-peptide-transporter 2 deficiency
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
Cardiomyopathy hypogonadism metabolic anomalies
Chondrocalcinosis 2
Chondrodysplasia with joint dislocations, gPAPP type
Combined ApoA-I and ApoC-III deficiency
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Defective apolipoprotein b-100
Deficiency of coenzyme q cytochrome c reductase
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
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
Ferro-cerebro-cutaneous syndrome
Fish eye disease
Gluthathione peroxidase deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hypertriglyceridemia 1
Hypertriglyceridemia 2
Hypoalphalipoproteinemia, primary, 1
Hypotonia-failure to thrive-microcephaly syndrome
Inherited threoninemia
Multiple epiphyseal dysplasia type 4
Normophosphatemic familial tumoral calcinosis
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepiphyseal dysplasia with congenital joint dislocations
Sulfide quinone oxidoreductase deficiency
Tumoral calcinosis, hyperphosphatemic, familial, 1
Tumoral calcinosis, hyperphosphatemic, familial, 2
Tumoral calcinosis, hyperphosphatemic, familial, 3
Uridine-cytidineuria
Weinstein kliman scully syndrome

Rare disease

Projects

Including projects on subtypes.

Sign in to start a project

No projects yet.