amino acid metabolism, inborn errors

Preferred Label : amino acid metabolism, inborn errors;

MeSH definition : 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.;

MeSH synonym : amino acidopathy, inborn; amino acid metabolism, inborn error; inborn errors, amino acid metabolism; amino acidopathies, inborn; congenital amino acidopathies; amino acidopathy, congenital; amino acidopathies, congenital; inborn amino acidopathies; inborn amino acidopathy; amino acid metabolism disorders, inborn; congenital amino acidopathy;

MeSH hyponym : amino acid metabolism, inherited disorders; Inherited Errors of Amino Acid Metabolism;

MeSH annotation : coord IM with specific amino acid /metab (IM); DF: AA METAB INBORN ERR; coord IM with specific amino acid /metab (IM);

Details

Origin ID

D000592;

UMLS CUI

C0002514;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Inborn error of amino acid metabolism [MedDRA Preferred Term]
- Inborn error of amino acid metabolism (disorder) [SNOMED CT concept]
- Inborn errors of amino acid metabolism [MedDRA High Level Term]
- amino acid metabolic disorder [DO Concept]
- inborn error of amino acid metabolism, nos [SNOMED Notion]
- organic acidemia [Artificial nutrition thesaurus concept]
DO Cross reference
- amino acid metabolic disorder [DO Concept]
Record concept(s)
- amino acid metabolism, inborn errors [MeSH concept]
- amino acid metabolism, inherited disorders [MeSH concept]
Related MeSH Supplementary Concept(s)
- 2-Methylacetoacetyl CoA thiolase deficiency [MeSH Supplementary Concept]
- 2-Methylbutyryl-Coa dehydrogenase deficiency [MeSH Supplementary Concept]
- 3-Hydroxy-3-Methylglutaryl-CoA lyase deficiency [MeSH Supplementary Concept]
- 3-Hydroxyisobutyric aciduria [MeSH Supplementary Concept]
- 5-oxoprolinase deficiency [MeSH Supplementary Concept]
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH Supplementary Concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Beta-Aminoisobutyric acid, urinary excretion of [MeSH Supplementary Concept]
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH Supplementary Concept]
- Glutaric Acidemia I [MeSH Supplementary Concept]
- Hyperleucine-Isoleucinemia [MeSH Supplementary Concept]
- Hypermethioninemia [MeSH Supplementary Concept]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- Mercaptolactate-Cysteine disulfiduria [MeSH Supplementary Concept]
- Methylmalonyl-CoA epimerase deficiency [MeSH Supplementary Concept]
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH Supplementary Concept]
- Richards-Rundle syndrome [MeSH Supplementary Concept]
- acidemia, isovaleric [MeSH Supplementary Concept]
- adams nance syndrome [MeSH Supplementary Concept]
- alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus [MeSH Supplementary Concept]
- alpha-ketoglutarate dehydrogenase deficiency [MeSH Supplementary Concept]
- amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis [MeSH Supplementary Concept]
- aminoacylase 1 deficiency [MeSH Supplementary Concept]
- arakawa syndrome 2 [MeSH Supplementary Concept]
- aromatic amino acid decarboxylase deficiency [MeSH Supplementary Concept]
- beta ketothiolase deficiency [MeSH Supplementary Concept]
- blue diaper syndrome [MeSH Supplementary Concept]
- camptodactyly taurinuria [MeSH Supplementary Concept]
- carboxypeptidase N deficiency [MeSH Supplementary Concept]
- cystathionase deficiency [MeSH Supplementary Concept]
- cysteine peptiduria [MeSH Supplementary Concept]
- diaminopentanuria [MeSH Supplementary Concept]
- dibasic amino aciduria I [MeSH Supplementary Concept]
- dimethylglycine dehydrogenase deficiency [MeSH Supplementary Concept]
- gamma aminobutyric acid transaminase deficiency [MeSH Supplementary Concept]
- glucoglycinuria [MeSH Supplementary Concept]
- glutamate monosodium sensitivity [MeSH Supplementary Concept]
- glutamine deficiency, congenital [MeSH Supplementary Concept]
- glutaric aciduria III [MeSH Supplementary Concept]
- glutathione synthetase deficiency [MeSH Supplementary Concept]
- glutathionuria [MeSH Supplementary Concept]
- glycinuria with or without oxalate urolithiasis [MeSH Supplementary Concept]
- histidinemia [MeSH Supplementary Concept]
- homocarnosinosis [MeSH Supplementary Concept]
- hydroxykynureninuria [MeSH Supplementary Concept]
- hydroxyprolinemia [MeSH Supplementary Concept]
- hyperprolinemia type 2 [MeSH Supplementary Concept]
- hypertaurinuric cardiomyopathy [MeSH Supplementary Concept]
- hypertryptophanemia, familial [MeSH Supplementary Concept]
- ichthyosis, split hairs, and amino aciduria [MeSH Supplementary Concept]
- indolylacroyl glycinuria with mental retardation [MeSH Supplementary Concept]
- ketoadipicaciduria [MeSH Supplementary Concept]
- lysine malabsorption syndrome [MeSH Supplementary Concept]
- lysinuric protein intolerance [MeSH Supplementary Concept]
- methionine malabsorption syndrome [MeSH Supplementary Concept]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- methylmalonic acidemia [MeSH Supplementary Concept]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]
- methylmalonic aciduria cblA type [MeSH Supplementary Concept]
- methylmalonic aciduria cblB type [MeSH Supplementary Concept]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH Supplementary Concept]
- myopathy due to Malate-Aspartate shuttle defect [MeSH Supplementary Concept]
- sarcosinemia [MeSH Supplementary Concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- sulfite oxidase deficiency [MeSH Supplementary Concept]
- tiglic acidemia [MeSH Supplementary Concept]
- tryptophanuria with dwarfism [MeSH Supplementary Concept]
- tyrosinosis [MeSH Supplementary Concept]
- urocanase deficiency [MeSH Supplementary Concept]
- valinemia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amino Acid Metabolism Disorder [NCIt concept]
- Amino acid metabolism disorder [MedDRA Preferred Term]
- Disorder of amino acid metabolism (disorder) [SNOMED CT concept]
- Disorder of amino-acid metabolism, unspecified [ICD-10 Sub-category]
- Disorders of amino acid transport and metabolism (disorder) [SNOMED CT concept]
- Disorders of amino-acid transport and metabolism [ICD-9 code]
- Inborn error of amino acid metabolism [MedDRA Preferred Term]
- Inborn error of amino acid metabolism (disorder) [SNOMED CT concept]
- Inborn errors of amino acid metabolism [MedDRA High Level Term]
- Unspecified disorder of amino-acid metabolism [MedDRA LLT]
- Unspecified disorder of amino-acid metabolism [ICD-9 code]
- amino acid metabolic disorder [DO Concept]
- amino acid metabolism disorders [MedlinePlus Topic]
- disorder of amino acid metabolism, nos [SNOMED Notion]
- disorders of amino acid and protein metabolism [Disease (Nov.)]
- inborn error of amino acid metabolism, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- disorders of amino acid and protein metabolism [Disease (Nov.)]

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