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Propionic acidemia

Propionic acidemia
Classification & external resources
Propionic acid
ICD-10 E71.1
ICD-9 270.3
OMIM 606054
DiseasesDB 29673 29904
eMedicine ped/1906 

Propionic acidemia, also known as propionic aciduria, or sometimes referred to as ketotic glycinemia, is an autosomal recessive amino acid disorder, classified as a branched-chain organic acidemia,[1] which presents in the early neonatal period with progressive encephalopathy.

Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke.[2]



Mutations in both copies of the PCCA or PCCB genes cause propionic acidemia.[3] These genes are responsible for the formation of the enzyme propionyl-CoA carboxylase (EC, referred to as PCC.

PCC is required for the normal breakdown of the essential amino acids valine, isoleucine, threonine, and methionine, as well as certain odd-chained fatty-acids. Mutations in the PCCA or PCCB genes disrupt the function of the enzyme, preventing these acids from being metabolized. As a result, propionyl-CoA, propionic acid, ketones and other toxic compounds accumulate in the blood, causing the signs and symptoms of propionic acidemia.


Propionic acidemia is characterized almost immediately in newborns. Symptoms include poor feeding, vomiting, dehydration, acidosis, low muscle tone (hypotonia), seizures, and lethargy. The effects of propionic acidemia quickly become life-threatening.


  Propionic acidemia is inherited in an autosomal recessive pattern and is found in about 1 in 35,000[3] live births in the United States. The condition appears to be more common in Saudi Arabia,[4] with a frequency of about 1 in 3,000[3]. The condition also appears to be common in Amish and Mennonite populations.[5]


  1. ^ Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C (2006). "Methylmalonic and propionic aciduria". Am J Med Genet C Semin Med Genet. 142 (2): 104-112. PMID 16602092.
  2. ^ Hamilton RL, Haas RH, Nyhan WC, Powell HC, Grafe MR (1995). "Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions". Journal of Child Neurology 10 (1): 25-30. PMID 7769173.
  3. ^ a b c
    Barry Lab - Vector and Virus Engineering. Gene therapy for Propionic Acidemia
  4. ^ Al-Odaib AN, Abu-Amaro KK, Ozand PT, Al-Hellani AM (2003). "A new era for preventive genetic programs in the Arabian Peninsula". Saudi Medical Journal 24 (11): 1168-1175. PMID 14647548.
  5. ^ Kidd JR, Wolf B, Hsia E, Kidd KK (1980). "Genetics of propionic acidemia in a Mennonite-Amish kindred". Am J Hum Genet. 32 (2): 236-245. PMID 7386459.

See also

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Propionic_acidemia". A list of authors is available in Wikipedia.
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