Metabolism, Inborn Errors [vrozené poruchy metabolismu]
- Terms
-
dědičné metabolické poruchy
dědičné poruchy metabolismu
metabolismus - vrozené poruchy
vrozené metabolické poruchy
-
Inborn Errors of Metabolism
Metabolism Errors, Inborn
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
- Annotation
- general or unspecified; prefer specific types; differentiate from DEFICIENCY DISEASES
- DUI
- D008661 MeSH Browser
- CUI
- M0013496
- History note
- 65
- Public note
- 65
Allowable subheadings
- BL
- blood 18
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification 22
- CO
- complications 38
- DI
- diagnosis 316
- DG
- diagnostic imaging
- DH
- diet therapy 16
- DT
- drug therapy 11
- EC
- economics 3
- EM
- embryology
- EN
- enzymology 14
- EP
- epidemiology 19
- EH
- ethnology 1
- ET
- etiology 65
- GE
- genetics 95
- HI
- history 6
- IM
- immunology 2
- ME
- metabolism 18
- MI
- microbiology
- MO
- mortality 5
- NU
- nursing 1
- PS
- parasitology
- PA
- pathology 23
- PP
- physiopathology 20
- PC
- prevention & control 27
- PX
- psychology 2
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 89
- UR
- urine 14
- VE
- veterinary
- VI
- virology
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Disease MeSH Browser
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Disease MeSH Browser
3-Methylglutaconic Aciduria Disease MeSH Browser
3-Methylglutaconic Aciduria Type IV Disease MeSH Browser
3-Methylglutaconic Aciduria, Type I Disease MeSH Browser
3-Methylglutaconic Aciduria, Type V Disease MeSH Browser
5-Nucleotidase syndrome Disease MeSH Browser
6-Phosphogluconolactonase Deficiency Disease MeSH Browser
Acetylcarnitine deficiency Disease MeSH Browser
Acholinesterasemia Disease MeSH Browser
Acid Phosphatase Deficiency Disease MeSH Browser
Adenine phosphoribosyltransferase deficiency Disease MeSH Browser
Amobarbital, Deficient N-Hydroxylation of Disease MeSH Browser
Arene Oxide Detoxification Defect Disease MeSH Browser
Aromatase deficiency Disease MeSH Browser
Aryl Hydrocarbon Hydroxylase Inducibility Disease MeSH Browser
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type Disease MeSH Browser
Butyrylcholinesterase deficiency Disease MeSH Browser
Carnitine Acetyltransferase Deficiency Disease MeSH Browser
Carnitine palmitoyl transferase 2 deficiency Disease MeSH Browser
Chromate Resistance Disease MeSH Browser
Combined Malonic and Methylmalonic Aciduria Disease MeSH Browser
Combined Oxidative Phosphorylation Deficiency 1 Disease MeSH Browser
Combined Oxidative Phosphorylation Deficiency 4 Disease MeSH Browser
Combined Oxidative Phosphorylation Deficiency 5 Disease MeSH Browser
Congenital chloride diarrhea Disease MeSH Browser
Copper deficiency, familial benign Disease MeSH Browser
Costeff optic atrophy syndrome Disease MeSH Browser
Coumarin Resistance Disease MeSH Browser
Coumarin Sensitivity Disease MeSH Browser
Deafness hyperuricemia neurologic ataxia Disease MeSH Browser
Deoxyribose-5-Phosphate Aldolase Deficiency Disease MeSH Browser
Diarrhea 3, Secretory Sodium, Congenital Disease MeSH Browser
Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency Disease MeSH Browser
Dihydropyrimidinase Deficiency Disease MeSH Browser
Diphenylhydantoin, Defect in Hydroxylation of Disease MeSH Browser
Drug Metabolism, Poor, CYP2C19-Related Disease MeSH Browser
Drug Metabolism, Poor, CYP2D6-Related Disease MeSH Browser
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Disease MeSH Browser
Enterokinase Deficiency Disease MeSH Browser
Ethanolaminosis Disease MeSH Browser
Finnish lethal neonatal metabolic syndrome Disease MeSH Browser
Fumaric aciduria Disease MeSH Browser
Glucocorticoid Receptor Deficiency Disease MeSH Browser
Glutamate formiminotransferase deficiency Disease MeSH Browser
Glycoprotein Storage Disease Disease MeSH Browser
Glyoxalase II Deficiency Disease MeSH Browser
Growth Factors, Combined Defect of Disease MeSH Browser
Hyaluronan Metabolism, Defect in Disease MeSH Browser
Hypercalcemia, Idiopathic, of Infancy Disease MeSH Browser
Hypoadiponectinemia Disease MeSH Browser
Hypokalemia, Familial Disease MeSH Browser
Hypoproteinemia, Hypercatabolic Disease MeSH Browser
Inosine Triphosphatase Deficiency Disease MeSH Browser
Intrinsic Factor and R Binder, Combined Congenital Deficiency of Disease MeSH Browser
Kallikrein, Decreased Urinary Activity of Disease MeSH Browser
L-Gulonolactone Oxidase, Nonfunctional Disease MeSH Browser
Lactate Dehydrogenase B Deficiency Disease MeSH Browser
Lactic Aciduria due to D-Lactic Acid Disease MeSH Browser
Leukotriene C4 Synthase Deficiency Disease MeSH Browser
Malonic aciduria Disease MeSH Browser
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type Disease MeSH Browser
Mannose-Binding Protein Deficiency Disease MeSH Browser
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency Disease MeSH Browser
Methemoglobin Reductase Deficiency Disease MeSH Browser
Methylcobalamin Deficiency, CblG Type Disease MeSH Browser
Methylmalonyl-Coenzyme A mutase deficiency Disease MeSH Browser
Mitochondrial Complex II Deficiency Disease MeSH Browser
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Disease MeSH Browser
Myeloperoxidase Deficiency Disease MeSH Browser
N acetyltransferase deficiency Disease MeSH Browser
Pancreatic Insufficiency, Combined Exocrine Disease MeSH Browser
Phenacetin O-Deethylase, Deficiency of Disease MeSH Browser
Phenol sulfotransferase deficiency Disease MeSH Browser
Phosphoglycerate Kinase 1 Deficiency Disease MeSH Browser
Proguanil, Poor Metabolism of Disease MeSH Browser
Retinol-Binding Protein Deficiency Disease MeSH Browser
Stomatocytosis I Disease MeSH Browser
Stomatocytosis II Disease MeSH Browser
Succinic Acidemia Disease MeSH Browser
Transcobalamin I Deficiency Disease MeSH Browser
Trimethylaminuria Disease MeSH Browser
Warfarin Sensitivity Disease MeSH Browser
Weinstein Kliman Scully syndrome Disease MeSH Browser
Wiedemann Oldigs Oppermann syndrome Disease MeSH Browser
Xanthinuria, Type I Disease MeSH Browser
alpha-Fetoprotein Deficiency Disease MeSH Browser
familial gynecomastia, due to increased aromatase activity Disease MeSH Browser
Narrower terms
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Transport Disorders, Inborn
- Amyloidosis, Familial
- Brain Diseases, Metabolic, Inborn
- Carbohydrate Metabolism, Inborn Errors
- Cytochrome-c Oxidase Deficiency
- Hyperbilirubinemia, Hereditary
- Lipid Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Metal Metabolism, Inborn Errors
- Peroxisomal Disorders
- Progeria
- Purine-Pyrimidine Metabolism, Inborn Errors
- Renal Tubular Transport, Inborn Errors
- Steroid Metabolism, Inborn Errors