vrozené poruchy metabolismu [Metabolism, Inborn Errors]
- Termíny
-
dědičné metabolické poruchy
dědičné poruchy metabolismu
metabolismus - vrozené poruchy
vrozené metabolické poruchy
-
Inborn Errors of Metabolism
Metabolism Errors, Inborn
Poruchy metabolických procesů vyvolané genetickými mutacemi, které jsou dědičné nebo získané in utero.
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
- Anotace
- general or unspecified; prefer specific types; differentiate from DEFICIENCY DISEASES
- DUI
- D008661 MeSH Prohlížeč
- CUI
- M0013496
- Historická pozn.
- 65
- Veřejná pozn.
- 65
Povolená podhesla
- CI
- chemicky indukované
- SU
- chirurgie
- HI
- dějiny 6
- DG
- diagnostické zobrazování
- DI
- diagnóza 316
- DH
- dietoterapie 16
- EC
- ekonomika 3
- EM
- embryologie
- EN
- enzymologie 14
- EP
- epidemiologie 19
- ET
- etiologie 65
- EH
- etnologie 1
- DT
- farmakoterapie 11
- GE
- genetika 95
- IM
- imunologie 2
- CL
- klasifikace 22
- CO
- komplikace 38
- BL
- krev 18
- ME
- metabolismus 18
- MI
- mikrobiologie
- UR
- moč 14
- MO
- mortalita 5
- CF
- mozkomíšní mok
- NU
- ošetřování 1
- PS
- parazitologie
- PP
- patofyziologie 20
- PA
- patologie 23
- PC
- prevence a kontrola 27
- PX
- psychologie 2
- RT
- radioterapie
- RH
- rehabilitace
- TH
- terapie 89
- VE
- veterinární
- VI
- virologie
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Disease MeSH Prohlížeč
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Disease MeSH Prohlížeč
3-Methylglutaconic Aciduria Disease MeSH Prohlížeč
3-Methylglutaconic Aciduria Type IV Disease MeSH Prohlížeč
3-Methylglutaconic Aciduria, Type I Disease MeSH Prohlížeč
3-Methylglutaconic Aciduria, Type V Disease MeSH Prohlížeč
5-Nucleotidase syndrome Disease MeSH Prohlížeč
6-Phosphogluconolactonase Deficiency Disease MeSH Prohlížeč
Acetylcarnitine deficiency Disease MeSH Prohlížeč
Acholinesterasemia Disease MeSH Prohlížeč
Acid Phosphatase Deficiency Disease MeSH Prohlížeč
Adenine phosphoribosyltransferase deficiency Disease MeSH Prohlížeč
Amobarbital, Deficient N-Hydroxylation of Disease MeSH Prohlížeč
Arene Oxide Detoxification Defect Disease MeSH Prohlížeč
Aromatase deficiency Disease MeSH Prohlížeč
Aryl Hydrocarbon Hydroxylase Inducibility Disease MeSH Prohlížeč
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type Disease MeSH Prohlížeč
Butyrylcholinesterase deficiency Disease MeSH Prohlížeč
Carnitine Acetyltransferase Deficiency Disease MeSH Prohlížeč
Carnitine palmitoyl transferase 2 deficiency Disease MeSH Prohlížeč
Chromate Resistance Disease MeSH Prohlížeč
Combined Malonic and Methylmalonic Aciduria Disease MeSH Prohlížeč
Combined Oxidative Phosphorylation Deficiency 1 Disease MeSH Prohlížeč
Combined Oxidative Phosphorylation Deficiency 4 Disease MeSH Prohlížeč
Combined Oxidative Phosphorylation Deficiency 5 Disease MeSH Prohlížeč
Congenital chloride diarrhea Disease MeSH Prohlížeč
Copper deficiency, familial benign Disease MeSH Prohlížeč
Costeff optic atrophy syndrome Disease MeSH Prohlížeč
Coumarin Resistance Disease MeSH Prohlížeč
Coumarin Sensitivity Disease MeSH Prohlížeč
Deafness hyperuricemia neurologic ataxia Disease MeSH Prohlížeč
Deoxyribose-5-Phosphate Aldolase Deficiency Disease MeSH Prohlížeč
Diarrhea 3, Secretory Sodium, Congenital Disease MeSH Prohlížeč
Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency Disease MeSH Prohlížeč
Dihydropyrimidinase Deficiency Disease MeSH Prohlížeč
Diphenylhydantoin, Defect in Hydroxylation of Disease MeSH Prohlížeč
Drug Metabolism, Poor, CYP2C19-Related Disease MeSH Prohlížeč
Drug Metabolism, Poor, CYP2D6-Related Disease MeSH Prohlížeč
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Disease MeSH Prohlížeč
Enterokinase Deficiency Disease MeSH Prohlížeč
Ethanolaminosis Disease MeSH Prohlížeč
Finnish lethal neonatal metabolic syndrome Disease MeSH Prohlížeč
Fumaric aciduria Disease MeSH Prohlížeč
Glucocorticoid Receptor Deficiency Disease MeSH Prohlížeč
Glutamate formiminotransferase deficiency Disease MeSH Prohlížeč
Glycoprotein Storage Disease Disease MeSH Prohlížeč
Glyoxalase II Deficiency Disease MeSH Prohlížeč
Growth Factors, Combined Defect of Disease MeSH Prohlížeč
Hyaluronan Metabolism, Defect in Disease MeSH Prohlížeč
Hypercalcemia, Idiopathic, of Infancy Disease MeSH Prohlížeč
Hypoadiponectinemia Disease MeSH Prohlížeč
Hypokalemia, Familial Disease MeSH Prohlížeč
Hypoproteinemia, Hypercatabolic Disease MeSH Prohlížeč
Inosine Triphosphatase Deficiency Disease MeSH Prohlížeč
Intrinsic Factor and R Binder, Combined Congenital Deficiency of Disease MeSH Prohlížeč
Kallikrein, Decreased Urinary Activity of Disease MeSH Prohlížeč
L-Gulonolactone Oxidase, Nonfunctional Disease MeSH Prohlížeč
Lactate Dehydrogenase B Deficiency Disease MeSH Prohlížeč
Lactic Aciduria due to D-Lactic Acid Disease MeSH Prohlížeč
Leukotriene C4 Synthase Deficiency Disease MeSH Prohlížeč
Malonic aciduria Disease MeSH Prohlížeč
Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type Disease MeSH Prohlížeč
Mannose-Binding Protein Deficiency Disease MeSH Prohlížeč
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency Disease MeSH Prohlížeč
Methemoglobin Reductase Deficiency Disease MeSH Prohlížeč
Methylcobalamin Deficiency, CblG Type Disease MeSH Prohlížeč
Methylmalonyl-Coenzyme A mutase deficiency Disease MeSH Prohlížeč
Mitochondrial Complex II Deficiency Disease MeSH Prohlížeč
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Disease MeSH Prohlížeč
Myeloperoxidase Deficiency Disease MeSH Prohlížeč
N acetyltransferase deficiency Disease MeSH Prohlížeč
Pancreatic Insufficiency, Combined Exocrine Disease MeSH Prohlížeč
Phenacetin O-Deethylase, Deficiency of Disease MeSH Prohlížeč
Phenol sulfotransferase deficiency Disease MeSH Prohlížeč
Phosphoglycerate Kinase 1 Deficiency Disease MeSH Prohlížeč
Proguanil, Poor Metabolism of Disease MeSH Prohlížeč
Retinol-Binding Protein Deficiency Disease MeSH Prohlížeč
Stomatocytosis I Disease MeSH Prohlížeč
Stomatocytosis II Disease MeSH Prohlížeč
Succinic Acidemia Disease MeSH Prohlížeč
Transcobalamin I Deficiency Disease MeSH Prohlížeč
Trimethylaminuria Disease MeSH Prohlížeč
Warfarin Sensitivity Disease MeSH Prohlížeč
Weinstein Kliman Scully syndrome Disease MeSH Prohlížeč
Wiedemann Oldigs Oppermann syndrome Disease MeSH Prohlížeč
Xanthinuria, Type I Disease MeSH Prohlížeč
alpha-Fetoprotein Deficiency Disease MeSH Prohlížeč
familial gynecomastia, due to increased aromatase activity Disease MeSH Prohlížeč
Užší termíny
- deficit cytochrom-c-oxidázy
- familiární amyloidóza
- familiární hyperbilirubinemie
- lyzozomální nemoci z ukládání
- metabolické nemoci mozku vrozené
- peroxizomální poruchy
- poruchy metabolismu purinů a pyrimidinů
- progerie
- vrozené poruchy metabolismu aminokyselin
- vrozené poruchy metabolismu kovů
- vrozené poruchy metabolismu sacharidů
- vrozené poruchy metabolismu steroidů
- vrozené poruchy metabolismu tuků
- vrozené poruchy transportu aminokyselin
- vrozené poruchy tubulárního transportu