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Propionic Acidemia
MeSH HeadingPropionic Acidemia
Tree NumberC16.320.565.100.823
Tree NumberC18.452.648.100.823
Scope NoteAutosomal 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 TermGlycinemia, Ketotic
Entry TermHyperglycinemia With Ketoacidosis And Leukopenia
Entry TermKetotic Glycinemia
Entry TermKetotic Hyperglycinemia
Entry TermPCC Deficiency
Entry TermPropionic Aciduria
Entry TermPropionicacidemia
Entry TermPropionicaciduria
Entry TermPropionyl-CoA Carboxylase Deficiency
See AlsoMethylmalonyl-CoA Decarboxylase
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
Previous Indexing Methylmalonyl-CoA Decarboxylase (1981-2009)
History Note2010
Date of Entry20090706
Unique IDD056693


MeSH Tree Structures

 
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]
Albinism [C16.320.565.100.102]  +
Alkaptonuria [C16.320.565.100.187]
Hyperglycinemia, Nonketotic [C16.320.565.100.477]
Hyperhomocysteinemia [C16.320.565.100.480]  +
Hyperlysinemias [C16.320.565.100.544]
Maple Syrup Urine Disease [C16.320.565.100.608]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614]
Multiple Carboxylase Deficiency [C16.320.565.100.620]  +
Phenylketonurias [C16.320.565.100.766]  +
Prolidase Deficiency [C16.320.565.100.794]
Arrow pointing to current tree nodePropionic Acidemia [C16.320.565.100.823]
Tyrosinemias [C16.320.565.100.880]
Urea Cycle Disorders, Inborn [C16.320.565.100.940]  +

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Albinism [C18.452.648.100.102]  +
Alkaptonuria [C18.452.648.100.187]
Hyperglycinemia, Nonketotic [C18.452.648.100.477]
Hyperhomocysteinemia [C18.452.648.100.480]  +
Hyperlysinemias [C18.452.648.100.544]
Maple Syrup Urine Disease [C18.452.648.100.608]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C18.452.648.100.614]
Multiple Carboxylase Deficiency [C18.452.648.100.620]  +
Phenylketonurias [C18.452.648.100.766]  +
Arrow pointing to current tree nodePropionic Acidemia [C18.452.648.100.823]
Tyrosinemias [C18.452.648.100.880]
Urea Cycle Disorders, Inborn [C18.452.648.100.940]  +

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