MeSH Browser

MeSH Heading: Propionic Acidemia
Tree Number(s): C16.320.565.100.823; C18.452.648.100.823
Unique ID: D056693
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D056693
Scope Note: 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.
Entry Term(s): Acidemia Propionic; Glycinemia, Ketotic; Hyperglycinemia With Ketoacidosis And Leukopenia; Ketotic Glycinemia; Ketotic Hyperglycinemia; PCC Deficiency; Propionic Aciduria; Propionicacidemia; Propionicaciduria; Propionyl-CoA Carboxylase Deficiency
Previous Indexing: Methylmalonyl-CoA Decarboxylase (1981-2009)
See Also: Methylmalonyl-CoA Decarboxylase
Public MeSH Note: 2010
History Note: 2010
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2023/02/26

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Amino Acid Metabolism, Inborn Errors [C16.320.565.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Metabolism, Inborn Errors [C18.452.648.100]

Propionic Acidemia Preferred

Concept UI: M0528609
Scope Note: 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.
Terms: Propionic Acidemia Preferred Term
Term UI T733492
Date01/16/2009
LexicalTag NON
ThesaurusID; Propionyl-CoA Carboxylase Deficiency
Term UI T733494
Date01/16/2009
LexicalTag ABX
ThesaurusID; Acidemia Propionic
Term UI T833794
Date12/05/2012
LexicalTag NON
ThesaurusID ORD (2010); Glycinemia, Ketotic
Term UI T734567
Date02/05/2009
LexicalTag NON
ThesaurusID; Hyperglycinemia With Ketoacidosis And Leukopenia
Term UI T812239
Date11/15/2011
LexicalTag NON
ThesaurusID; Ketotic Glycinemia
Term UI T734569
Date02/05/2009
LexicalTag NON
ThesaurusID; Ketotic Hyperglycinemia
Term UI T733493
Date01/16/2009
LexicalTag NON
ThesaurusID; Propionicacidemia
Term UI T734570
Date02/05/2009
LexicalTag NON
ThesaurusID; PCC Deficiency
Term UI T734566
Date02/05/2009
LexicalTag ABX
ThesaurusID

Propionicaciduria Narrower

Propionic Acidemia MeSH Descriptor Data 2024