vrozené poruchy metabolismu aminokyselin [Amino Acid Metabolism, Inborn Errors]
- Termíny
-
aminokyseliny - vrozené poruchy metabolismu
dědičné poruchy metabolismu aminokyselin
-
Amino Acid Metabolism Disorders, Inborn
Amino Acid Metabolism, Inborn Error
Amino Acid Metabolism, Inherited Disorders
Amino Acidopathies, Congenital
Amino Acidopathies, Inborn
Congenital Amino Acidopathies
Inborn Errors, Amino Acid Metabolism
Inherited Errors of Amino Acid Metabolism
Poruchy metabolismu aminokyselin. Většinou jsou dědičné a projevují se v neonatálním období jako metabolické poruchy (např. acidóza) a neurologické manifestace. Tyto nemoci jsou přítomné již při narození, ačkoli se klinické příznaky mohou projevit až v pozdějším věku.
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
- Anotace
- coord IM with specific amino acid /metab (IM)
- DUI
- D000592 MeSH Prohlížeč
- CUI
- M0000918
- Historická pozn.
- 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
- Veřejná pozn.
- 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
Povolená podhesla
- CI
- chemicky indukované
- SU
- chirurgie 1
- HI
- dějiny 1
- DG
- diagnostické zobrazování 2
- DI
- diagnóza 50
- DH
- dietoterapie 12
- EC
- ekonomika
- EM
- embryologie
- EN
- enzymologie 2
- EP
- epidemiologie 5
- ET
- etiologie 9
- EH
- etnologie 1
- DT
- farmakoterapie 2
- GE
- genetika 11
- IM
- imunologie
- CL
- klasifikace
- CO
- komplikace 16
- BL
- krev 4
- ME
- metabolismus 12
- MI
- mikrobiologie
- UR
- moč 6
- MO
- mortalita
- CF
- mozkomíšní mok
- NU
- ošetřování
- PS
- parazitologie
- PP
- patofyziologie 6
- PA
- patologie 6
- PC
- prevence a kontrola 2
- PX
- psychologie
- RT
- radioterapie
- RH
- rehabilitace
- TH
- terapie 6
- VE
- veterinární 1
- VI
- virologie
2-Methylacetoacetyl CoA thiolase deficiency Disease MeSH Prohlížeč
2-Methylbutyryl-CoA Dehydrogenase Deficiency Disease MeSH Prohlížeč
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Disease MeSH Prohlížeč
3-Hydroxyisobutyric aciduria Disease MeSH Prohlížeč
5-oxoprolinase deficiency Disease MeSH Prohlížeč
Acidemia, isovaleric Disease MeSH Prohlížeč
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Disease MeSH Prohlížeč
Adams Nance syndrome Disease MeSH Prohlížeč
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Disease MeSH Prohlížeč
Alpha-ketoglutarate dehydrogenase deficiency Disease MeSH Prohlížeč
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Disease MeSH Prohlížeč
Aminoacylase 1 deficiency Disease MeSH Prohlížeč
Arakawa syndrome 2 Disease MeSH Prohlížeč
Arginine-Glycine Amidinotransferase Deficiency Disease MeSH Prohlížeč
Aromatic amino acid decarboxylase deficiency Disease MeSH Prohlížeč
Beta ketothiolase deficiency Disease MeSH Prohlížeč
Beta-Aminoisobutyric Acid, Urinary Excretion of Disease MeSH Prohlížeč
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Disease MeSH Prohlížeč
Blue diaper syndrome Disease MeSH Prohlížeč
Camptodactyly taurinuria Disease MeSH Prohlížeč
Carboxypeptidase N Deficiency Disease MeSH Prohlížeč
Cystathionase Deficiency Disease MeSH Prohlížeč
Cysteine Peptiduria Disease MeSH Prohlížeč
Diaminopentanuria Disease MeSH Prohlížeč
Dibasic Amino Aciduria I Disease MeSH Prohlížeč
Dimethylglycine Dehydrogenase Deficiency Disease MeSH Prohlížeč
Gamma aminobutyric acid transaminase deficiency Disease MeSH Prohlížeč
Glucoglycinuria Disease MeSH Prohlížeč
Glutamate Monosodium Sensitivity Disease MeSH Prohlížeč
Glutamine deficiency, congenital Disease MeSH Prohlížeč
Glutaric Acidemia I Disease MeSH Prohlížeč
Glutaric Aciduria III Disease MeSH Prohlížeč
Glutathione synthetase deficiency Disease MeSH Prohlížeč
Glutathionuria Disease MeSH Prohlížeč
Glycinuria with or without Oxalate Urolithiasis Disease MeSH Prohlížeč
Histidinemia Disease MeSH Prohlížeč
Homocarnosinosis Disease MeSH Prohlížeč
Hydroxykynureninuria Disease MeSH Prohlížeč
Hydroxyprolinemia Disease MeSH Prohlížeč
Hyperleucine-Isoleucinemia Disease MeSH Prohlížeč
Hypermethioninemia Disease MeSH Prohlížeč
Hyperprolinemia type 2 Disease MeSH Prohlížeč
Hypertaurinuric Cardiomyopathy Disease MeSH Prohlížeč
Hypertryptophanemia, Familial Disease MeSH Prohlížeč
Ichthyosis, Split Hairs, and Amino Aciduria Disease MeSH Prohlížeč
Indolylacroyl Glycinuria with Mental Retardation Disease MeSH Prohlížeč
Isobutyryl-CoA dehydrogenase deficiency Disease MeSH Prohlížeč
Ketoadipicaciduria Disease MeSH Prohlížeč
Lysine Malabsorption Syndrome Disease MeSH Prohlížeč
Lysinuric Protein Intolerance Disease MeSH Prohlížeč
Mercaptolactate-Cysteine Disulfiduria Disease MeSH Prohlížeč
Methionine Malabsorption Syndrome Disease MeSH Prohlížeč
Methylmalonate Semialdehyde Dehydrogenase Deficiency Disease MeSH Prohlížeč
Methylmalonic Aciduria and Homocystinuria, CblD Type Disease MeSH Prohlížeč
Methylmalonic Aciduria and Homocystinuria, CblF Type Disease MeSH Prohlížeč
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Disease MeSH Prohlížeč
Methylmalonic acidemia Disease MeSH Prohlížeč
Methylmalonic aciduria cblA type Disease MeSH Prohlížeč
Methylmalonic aciduria cblB type Disease MeSH Prohlížeč
Methylmalonyl-CoA Epimerase Deficiency Disease MeSH Prohlížeč
Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency Disease MeSH Prohlížeč
Myopathy due to Malate-Aspartate Shuttle Defect Disease MeSH Prohlížeč
Richards-Rundle syndrome Disease MeSH Prohlížeč
Sarcosinemia Disease MeSH Prohlížeč
Sulfite oxidase deficiency Disease MeSH Prohlížeč
Tiglic acidemia Disease MeSH Prohlížeč
Tryptophanuria With Dwarfism Disease MeSH Prohlížeč
Tyrosinosis Disease MeSH Prohlížeč
Urocanase deficiency Disease MeSH Prohlížeč
Valinemia Disease MeSH Prohlížeč
succinic semialdehyde dehydrogenase deficiency Disease MeSH Prohlížeč