Metabolism, Inborn Errors [vrozené poruchy metabolismu]

topical
711
Terms

dědičné metabolické poruchy
dědičné poruchy metabolismu
metabolismus - vrozené poruchy
vrozené metabolické poruchy

 

Inborn Errors of Metabolism
Metabolism Errors, Inborn

Persistent link   https://www.medvik.cz/link/D008661
Definition

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

C Diseases
C16.320.051 Alagille Syndrome 19
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.365 Hemoglobinopathies 68
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.540 Marfan Syndrome 105
C16.320.565.176 Amyloidosis, Familial 16
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.663 Peroxisomal Disorders 20
C16.320.565.753 Progeria 27
C16.320.577 Muscular Dystrophies 140
C16.320.728 Osteochondrodysplasias 123
C16.320.784 Pelger-Huet Anomaly 7
C16.320.812 Pycnodysostosis 2
C16.320.925 Werner Syndrome 14
C18.452 Metabolic Diseases 1 196
C18.452.076 Acid-Base Imbalance 287
C18.452.479 Hyperlactatemia 5
C18.452.625 Metabolic Syndrome 1 988
C18.452.648.176 Amyloidosis, Familial 16
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.663 Peroxisomal Disorders 20
C18.452.648.753 Progeria 27
C18.452.660 Mitochondrial Diseases 159
C18.452.811 Porphyrias 252
C18.452.915 Wasting Syndrome 13

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