Amino Acid Metabolism, Inborn Errors [vrozené poruchy metabolismu aminokyselin]
- Terms
-
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
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.
- Annotation
- coord IM with specific amino acid /metab (IM)
- DUI
- D000592 MeSH Browser
- CUI
- M0000918
- History note
- 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
- Public note
- 1965; PROTEIN METABOLISM DISORDERS was heading 1963-1964
Allowable subheadings
- BL
- blood 4
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 16
- DI
- diagnosis 50
- DG
- diagnostic imaging 2
- DH
- diet therapy 12
- DT
- drug therapy 2
- EC
- economics
- EM
- embryology
- EN
- enzymology 2
- EP
- epidemiology 5
- EH
- ethnology 1
- ET
- etiology 9
- GE
- genetics 11
- HI
- history 1
- IM
- immunology
- ME
- metabolism 12
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 6
- PP
- physiopathology 6
- PC
- prevention & control 2
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery 1
- TH
- therapy 6
- UR
- urine 6
- VE
- veterinary 1
- VI
- virology
2-Methylacetoacetyl CoA thiolase deficiency Disease MeSH Browser
2-Methylbutyryl-CoA Dehydrogenase Deficiency Disease MeSH Browser
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Disease MeSH Browser
3-Hydroxyisobutyric aciduria Disease MeSH Browser
5-oxoprolinase deficiency Disease MeSH Browser
Acidemia, isovaleric Disease MeSH Browser
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Disease MeSH Browser
Adams Nance syndrome Disease MeSH Browser
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Disease MeSH Browser
Alpha-ketoglutarate dehydrogenase deficiency Disease MeSH Browser
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Disease MeSH Browser
Aminoacylase 1 deficiency Disease MeSH Browser
Arakawa syndrome 2 Disease MeSH Browser
Arginine-Glycine Amidinotransferase Deficiency Disease MeSH Browser
Aromatic amino acid decarboxylase deficiency Disease MeSH Browser
Beta ketothiolase deficiency Disease MeSH Browser
Beta-Aminoisobutyric Acid, Urinary Excretion of Disease MeSH Browser
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Disease MeSH Browser
Blue diaper syndrome Disease MeSH Browser
Camptodactyly taurinuria Disease MeSH Browser
Carboxypeptidase N Deficiency Disease MeSH Browser
Cystathionase Deficiency Disease MeSH Browser
Cysteine Peptiduria Disease MeSH Browser
Diaminopentanuria Disease MeSH Browser
Dibasic Amino Aciduria I Disease MeSH Browser
Dimethylglycine Dehydrogenase Deficiency Disease MeSH Browser
Gamma aminobutyric acid transaminase deficiency Disease MeSH Browser
Glucoglycinuria Disease MeSH Browser
Glutamate Monosodium Sensitivity Disease MeSH Browser
Glutamine deficiency, congenital Disease MeSH Browser
Glutaric Acidemia I Disease MeSH Browser
Glutaric Aciduria III Disease MeSH Browser
Glutathione synthetase deficiency Disease MeSH Browser
Glutathionuria Disease MeSH Browser
Glycinuria with or without Oxalate Urolithiasis Disease MeSH Browser
Histidinemia Disease MeSH Browser
Homocarnosinosis Disease MeSH Browser
Hydroxykynureninuria Disease MeSH Browser
Hydroxyprolinemia Disease MeSH Browser
Hyperleucine-Isoleucinemia Disease MeSH Browser
Hypermethioninemia Disease MeSH Browser
Hyperprolinemia type 2 Disease MeSH Browser
Hypertaurinuric Cardiomyopathy Disease MeSH Browser
Hypertryptophanemia, Familial Disease MeSH Browser
Ichthyosis, Split Hairs, and Amino Aciduria Disease MeSH Browser
Indolylacroyl Glycinuria with Mental Retardation Disease MeSH Browser
Isobutyryl-CoA dehydrogenase deficiency Disease MeSH Browser
Ketoadipicaciduria Disease MeSH Browser
Lysine Malabsorption Syndrome Disease MeSH Browser
Lysinuric Protein Intolerance Disease MeSH Browser
Mercaptolactate-Cysteine Disulfiduria Disease MeSH Browser
Methionine Malabsorption Syndrome Disease MeSH Browser
Methylmalonate Semialdehyde Dehydrogenase Deficiency Disease MeSH Browser
Methylmalonic Aciduria and Homocystinuria, CblD Type Disease MeSH Browser
Methylmalonic Aciduria and Homocystinuria, CblF Type Disease MeSH Browser
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Disease MeSH Browser
Methylmalonic acidemia Disease MeSH Browser
Methylmalonic aciduria cblA type Disease MeSH Browser
Methylmalonic aciduria cblB type Disease MeSH Browser
Methylmalonyl-CoA Epimerase Deficiency Disease MeSH Browser
Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency Disease MeSH Browser
Myopathy due to Malate-Aspartate Shuttle Defect Disease MeSH Browser
Richards-Rundle syndrome Disease MeSH Browser
Sarcosinemia Disease MeSH Browser
Sulfite oxidase deficiency Disease MeSH Browser
Tiglic acidemia Disease MeSH Browser
Tryptophanuria With Dwarfism Disease MeSH Browser
Tyrosinosis Disease MeSH Browser
Urocanase deficiency Disease MeSH Browser
Valinemia Disease MeSH Browser
succinic semialdehyde dehydrogenase deficiency Disease MeSH Browser