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, which presents in the early neonatal period with progressive encephalopathy.
Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke.
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 live births in the United States. The condition appears to be more common in Saudi Arabia, with a frequency of about 1 in 3,000. The condition also appears to be common in Amish and Mennonite populations.
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^ 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 Neurology10 (1): 25-30. PMID 7769173.
^ abc http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm Barry Lab - Vector and Virus Engineering. Gene therapy for Propionic Acidemia
^ 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 Journal24 (11): 1168-1175. PMID 14647548.
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