Editing Propionic acidemia (section)

{{short description|Rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia}}
{{Infobox medical condition (new)
| synonyms        = Hyperglycinemia with ketoacidosis and leukopenia
| image           = Propionic acid structure.svg
| caption         = [[Propionic acid]]
| symptoms        = Poor muscle tone, lethargy, vomiting
| complications   =
| onset           =
| duration        =
| types           =
| causes          =
| risks           =
| diagnosis       = Genetic testing; high levels of propionic acid in the urine
| differential    =
| prevention      =
| treatment       = Low-protein diet
| medication      =
| prognosis       = Development may be normal, or patients may have lifelong learning disabilities
| frequency       =
| deaths          =
}}

'''Propionic acidemia''', also known as '''propionic aciduria''' or '''[[propionyl-CoA carboxylase]] deficiency''' ('''PCC deficiency'''),<ref>{{OMIM|606054}}</ref> is a rare [[Dominance (genetics)|autosomal recessive]] [[metabolic disorder]], classified as a [[branched-chain amino acid|branched-chain]] [[organic acidemia]].<ref>{{cite journal |pmid=10820128 |date=July 2000 |author1=Ravn K |author2=Chloupkova M |author3= Christensen E |author4=Brandt NJ |author5=Simonsen H |author6=Kraus JP |author7=Nielsen IM |author8=Skovby F |author9=Schwartz M |title=High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase |volume=67 |issue=1 |pages=203–206 |pmc=1287078 |doi=10.1086/302971 |journal=American Journal of Human Genetics}}</ref><ref name="oad">{{cite journal |vauthors =Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C |title=Methylmalonic and propionic aciduria |journal=[[Am J Med Genet C Semin Med Genet]] |volume=142 |issue=2 |pages=104–112 |year=2006 |pmid=16602092 |doi=10.1002/ajmg.c.30090 |s2cid=21114631 }}</ref>

The disorder presents in the early [[neonatal]] period with poor feeding, vomiting, lethargy, and lack of muscle tone.<ref name=NCATS>{{cite news|title=Propionic acidemia |url=https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia |date=2 Dec 2015 |access-date=6 June 2018 |publisher=[[National Center for Advancing Translational Sciences]]}}</ref> Without treatment, death can occur quickly, due to secondary [[hyperammonemia]], infection, cardiomyopathy, or brain damage.<ref name="pbg">{{cite journal |vauthors =Hamilton RL, Haas RH, Nyhan WC, Powell HC, Grafe MR |title=Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions |journal=Journal of Child Neurology |volume=10 |issue=1 |pages=25–30 |year=1995 |pmid=7769173 |doi=10.1177/088307389501000107 |s2cid=12674920 }}</ref>