propionic acidemia

Preferred Label : propionic acidemia;

MeSH definition : Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.;

MeSH synonym : Acidemia, Propionic; Propionic Acidemias; Ketotic Glycinemia; Propionyl-CoA Carboxylase Deficiency; Carboxylase Deficiencies, Propionyl-CoA; Carboxylase Deficiency, Propionyl-CoA; Deficiencies, Propionyl-CoA Carboxylase; Deficiency, Propionyl-CoA Carboxylase; Propionyl CoA Carboxylase Deficiency; Propionyl-CoA Carboxylase Deficiencies; PCC Deficiency; Deficiency, PCC; PCC Deficiencies; Propionicacidemia; Propionicacidemias; Glycinemia, Ketotic; Glycinemias, Ketotic; Ketotic Glycinemias; Ketotic Hyperglycinemia; Hyperglycinemia, Ketotic; Hyperglycinemias, Ketotic; Ketotic Hyperglycinemias; hyperglycinemia with ketoacidosis and leukopenia; acidemia propionic; acidemia propionics; propionic, acidemia;

CISMeF synonym : Acidemias, Propionic; Deficiencies, PCC; propionics, acidemia;

MeSH hyponym : propionicaciduria; Propionicacidurias; Propionic Aciduria; Aciduria, Propionic; Acidurias, Propionic; Propionic Acidurias;

CISMeF hyponym : acidurie propionique;

Wikipedia link : https://en.wikipedia.org/wiki/Acidemia, propionic;

Details

Origin ID

D056693;

UMLS CUI

C0268579;

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)
- Ketotic glycinaemia [MedDRA LLT]
- Ketotic glycinemia [MedDRA LLT]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category]
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidemia [MedDRA LLT]
- Propionyl-CoA carboxylase deficiency [MedDRA LLT]
- propionic acidemia [Artificial nutrition thesaurus concept]
- propionyl-coa carboxylase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Propionic Acidemia [NCIt concept]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia [HPO term]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionic aciduria [ICD-11 More detail]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [DO Concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia, nos [SNOMED Notion]
DO Cross reference
- propionic acidemia [DO Concept]
HPO term
- Propionic acidemia [HPO term]
- Propionyl-CoA carboxylase deficiency [HPO term]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
Manual NTBT mappings (CISMeF)
- Classic organic aciduria [ORDO Disease]
MeSH Descriptor(s) used for indexing
- Methylmalonyl-CoA decarboxylase [MeSH Descriptor]
- Propionyl-Coenzyme A Carboxylase [MeSH Descriptor]
ORDO relation(s)
- Propionic acidemia [ORDO Disease]
Record concept(s)
- propionic acidemia [MeSH concept]
- propionicaciduria [MeSH concept]
Related MeSH Supplementary Concept(s)
- CoQ-responsive OXPHOS deficiency [MeSH Supplementary Concept]
See also
- Methylmalonyl-CoA decarboxylase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ketotic glycinaemia [MedDRA LLT]
- Ketotic glycinemia [MedDRA LLT]
- Propionic Acidemia [NCIt concept]
- Propionic acidaemia [MedDRA LLT]
- Propionic acidaemia [MedDRA Preferred Term]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia [ORDO Disease]
- Propionic acidemia [HPO term]
- Propionic acidemia [MedDRA LLT]
- Propionic acidemia (disorder) [SNOMED CT concept]
- Propionic aciduria [ICD-11 More detail]
- Propionyl-CoA carboxylase deficiency [HPO term]
- propionic acidemia [DO Concept]
- propionic acidemia [Disease (Nov.)]
- propionic acidemia, nos [SNOMED Notion]
- propionyl-coa carboxylase deficiency [SNOMED Notion]

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