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Up to: Hereditary disease · Metabolic disease

Inborn errors of metabolism

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

48 trials tagged with this condition →

Inherited lipid metabolism disorder 201 trials · 644 incl. sub-types Sub-types →
Inborn carbohydrate metabolic disorder 3 trials · 369 incl. sub-types Sub-types →
Abdominal obesity-metabolic syndrome 301 trials · 357 incl. sub-types Sub-types →
Lysosomal storage disease 37 trials · 302 incl. sub-types Sub-types →
Inborn disorder of energy metabolism 2 trials · 235 incl. sub-types Sub-types →
Inborn disorder of amino acid and other organic acid metabolism 0 trials · 225 incl. sub-types Sub-types →
Waldenstrom macroglobulinemia 136 trials Sub-types →
DNA repair disease 13 trials · 105 incl. sub-types Sub-types →
Hereditary amyloidosis 19 trials · 79 incl. sub-types Sub-types →
Inborn disorder of porphyrin metabolism 0 trials · 63 incl. sub-types Sub-types →
Mucopolysaccharidosis or mucopolysaccharidosis-like disorder 0 trials · 61 incl. sub-types Sub-types →
Inborn metal metabolism disorder 1 trial · 60 incl. sub-types Sub-types →
Disorder of metabolite absorption and transport 0 trials · 59 incl. sub-types Sub-types →
Inborn disorder of purine or pyrimidine metabolism 1 trial · 50 incl. sub-types Sub-types →
Plasma protein metabolism disease 0 trials · 47 incl. sub-types Sub-types →
Peroxisomal disease 2 trials · 38 incl. sub-types Sub-types →
Congenital disorder of glycosylation 7 trials · 36 incl. sub-types Sub-types →
Monogenic diabetes 9 trials · 24 incl. sub-types Sub-types →
Glycoprotein metabolism disease 1 trial · 23 incl. sub-types Sub-types →
Hereditary lipodystrophy 2 trials · 17 incl. sub-types Sub-types →
Familial intrahepatic cholestasis 1 trial · 17 incl. sub-types Sub-types →
Disorder of lysosomal-related organelles 0 trials · 17 incl. sub-types Sub-types →
Hypophosphatasia 13 trials Sub-types →
Familial hypoparathyroidism 0 trials · 10 incl. sub-types Sub-types →
Inborn disorder of biogenic amine metabolism and transport 0 trials · 10 incl. sub-types Sub-types →
Neurodegeneration with brain iron accumulation 1 trial · 8 incl. sub-types Sub-types →
Inherited thyroid metabolism disease 0 trials · 8 incl. sub-types Sub-types →
Inborn vitamin metabolic disorder 0 trials · 7 incl. sub-types Sub-types →
Inborn aminoacylase deficiency 0 trials · 6 incl. sub-types Sub-types →
Disorder of peptide and amine metabolism 0 trials · 4 incl. sub-types Sub-types →
Diastrophic dysplasia 2 trials
Hypercalcemia, infantile 2 trials Sub-types →
Hypoalphalipoproteinemia, primary, 1 2 trials
Congenital disorder of deglycosylation 0 trials · 2 incl. sub-types Sub-types →
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
Diabetes mellitus, noninsulin-dependent, 1 1 trial
Diabetes mellitus, noninsulin-dependent, 2 1 trial
Fish eye disease 1 trial
2-hydroxyglutaric aciduria 0 trials · 1 incl. sub-types Sub-types →
Familial hypocalciuric hypercalcemia 0 trials · 1 incl. sub-types Sub-types →
Hereditary recurrent myoglobinuria 0 trials · 1 incl. sub-types Sub-types →
Thiopurine metabolic disease 0 trials · 1 incl. sub-types Sub-types →
4-hydroxyphenylacetic aciduria 0 trials
5-nucleotidase syndrome 0 trials
APO A-i deficiency 0 trials
CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis 0 trials
Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
Lane Hamilton syndrome 0 trials
NAD(P)HX dehydratase deficiency 0 trials
SQSTM1-related multisystem proteinopathy 0 trials Sub-types →
Achondrogenesis type IB 0 trials
Antigen-peptide-transporter 2 deficiency 0 trials
Apolipoprotein c-III deficiency 0 trials
Aromatase excess syndrome 0 trials
Atelosteogenesis type II 0 trials
Autosomal dominant dopa-responsive dystonia 0 trials Sub-types →
Autosomal dominant myoglobinuria 0 trials
Autosomal dominant proximal renal tubular acidosis 0 trials
Autosomal recessive proximal renal tubular acidosis 0 trials
Cardiomyopathy hypogonadism metabolic anomalies 0 trials
Chondrocalcinosis 2 0 trials
Chondrodysplasia with joint dislocations, gPAPP type 0 trials
Combined ApoA-I and ApoC-III deficiency 0 trials
Defective apolipoprotein b-100 0 trials
Deficiency of coenzyme q cytochrome c reductase 0 trials
Diabetes mellitus, noninsulin-dependent, 3 0 trials
Diabetes mellitus, noninsulin-dependent, 4 0 trials
Diabetes mellitus, noninsulin-dependent, 5 0 trials
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome 0 trials
Ferro-cerebro-cutaneous syndrome 0 trials
Gluthathione peroxidase deficiency 0 trials
Hemolytic anemia due to diphosphoglycerate mutase deficiency 0 trials
Hypercholesterolemia, familial, 4 0 trials
Hypermanganesemia with dystonia 0 trials Sub-types →
Hypertriglyceridemia 1 0 trials
Hypertriglyceridemia 2 0 trials
Hypoalphalipoproteinemia, primary, 2 0 trials Sub-types →
Hypotonia-failure to thrive-microcephaly syndrome 0 trials
Inborn disorder of aspartate family metabolism 0 trials Sub-types →
Inborn glycerol kinase deficiency 0 trials Sub-types →
Inherited threoninemia 0 trials
Multiple epiphyseal dysplasia type 4 0 trials
Normophosphatemic familial tumoral calcinosis 0 trials
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 0 trials
Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 trials
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 trials
Striatonigral degeneration 0 trials Sub-types →
Sulfide quinone oxidoreductase deficiency 0 trials
Tumoral calcinosis, hyperphosphatemic, familial, 1 0 trials
Tumoral calcinosis, hyperphosphatemic, familial, 2 0 trials
Tumoral calcinosis, hyperphosphatemic, familial, 3 0 trials
Uridine-cytidineuria 0 trials
Weinstein kliman scully syndrome 0 trials