Propionic acidemia epidemiology and demographics: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Propionic acidemia}} | |||
{{CMG}}; {{AE}} | |||
==Overview== | ==Overview== | ||
'''Propionic acidemia''', also known as '''propionic aciduria''', '''propionyl-CoA carboxylase deficiency''' and '''ketotic glycinemia''',<ref>{{OMIM|606054}}</ref> is an [[autosomal]] [[recessive]]<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> [[metabolic disorder]], classified as a [[branched-chain amino acid|branched-chain]] [[organic acidemia]].<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 }}</ref> | '''Propionic acidemia''', also known as '''propionic aciduria''', '''propionyl-CoA carboxylase deficiency''' and '''ketotic glycinemia''',<ref>{{OMIM|606054}}</ref> is an [[autosomal]] [[recessive]]<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> [[metabolic disorder]], classified as a [[branched-chain amino acid|branched-chain]] [[organic acidemia]].<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 }}</ref> | ||
The disorder presents in the early [[neonatal]] period with progressive [[encephalopathy]]. Death can occur quickly, due to secondary [[hyperammonemia]], infection, cardiomyopathy, or basal ganglial stroke.<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 }}</ref> | The disorder presents in the early [[neonatal]] period with progressive [[encephalopathy]]. Death can occur quickly, due to secondary [[hyperammonemia]], infection, cardiomyopathy, or basal ganglial stroke.<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 }}</ref> | ||
Propionic acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA. | Propionic acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA. | ||
== | |||
==Epidemiology and Demographics== | |||
Propionic acidemia is inherited in an [[autosomal]] [[recessive]] pattern and is found in about 1 in 35,000<ref name="pamr" /> live births in the [[United States]]. The condition appears to be more common in [[Saudi Arabia]],<ref name="pasa">{{cite journal |vauthors =Al-Odaib AN, Abu-Amaro KK, Ozand PT, Al-Hellani AM |title=A new era for preventive genetic programs in the Arabian Peninsula |journal=Saudi Medical Journal |volume=24 |issue=11 |pages=1168–1175 |year=2003 |pmid=14647548 }}</ref> with a frequency of about 1 in 3,000.<ref name="pamr">[http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm]<br />Barry Lab - Vector and Virus Engineering. ''Gene therapy for Propionic Acidemia''</ref> The condition also appears to be common in [[Amish]], [[Mennonite]] and other populations where inbreeding is common.<ref name="paam">{{cite journal |vauthors =Kidd JR, Wolf B, Hsia E, Kidd KK |title=Genetics of propionic acidemia in a Mennonite-Amish kindred |journal=Am J Hum Genet. |volume=32 |issue=2 |pages=236–245 |year=1980 |pmid=7386459 |pmc=1686010 }}</ref> | Propionic acidemia is inherited in an [[autosomal]] [[recessive]] pattern and is found in about 1 in 35,000<ref name="pamr" /> live births in the [[United States]]. The condition appears to be more common in [[Saudi Arabia]],<ref name="pasa">{{cite journal |vauthors =Al-Odaib AN, Abu-Amaro KK, Ozand PT, Al-Hellani AM |title=A new era for preventive genetic programs in the Arabian Peninsula |journal=Saudi Medical Journal |volume=24 |issue=11 |pages=1168–1175 |year=2003 |pmid=14647548 }}</ref> with a frequency of about 1 in 3,000.<ref name="pamr">[http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm http://mayoresearch.mayo.edu/mayo/research/barry_lab/ropionic-Aciademia.cfm]<br />Barry Lab - Vector and Virus Engineering. ''Gene therapy for Propionic Acidemia''</ref> The condition also appears to be common in [[Amish]], [[Mennonite]] and other populations where inbreeding is common.<ref name="paam">{{cite journal |vauthors =Kidd JR, Wolf B, Hsia E, Kidd KK |title=Genetics of propionic acidemia in a Mennonite-Amish kindred |journal=Am J Hum Genet. |volume=32 |issue=2 |pages=236–245 |year=1980 |pmid=7386459 |pmc=1686010 }}</ref> | ||
==References== | ==References== | ||
{{reflist}} | {{reflist}} | ||
[[Category:Endocrinology]] | |||
{{WS}} | |||
{{WH}} | |||
Latest revision as of 14:50, 25 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia,[1] is an autosomal recessive[2] metabolic disorder, classified as a branched-chain organic acidemia.[3] The disorder presents in the early neonatal period with progressive encephalopathy. Death can occur quickly, due to secondary hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke.[4] Propionic acidemia is a rare disorder that is inherited from both parents. Being autosomal recessive, neither parent shows symptoms, but both carry a defective gene responsible for this disease. It takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a child with PA.
Epidemiology and Demographics
Propionic acidemia is inherited in an autosomal recessive pattern and is found in about 1 in 35,000[5] live births in the United States. The condition appears to be more common in Saudi Arabia,[6] with a frequency of about 1 in 3,000.[5] The condition also appears to be common in Amish, Mennonite and other populations where inbreeding is common.[7]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 606054
- ↑ Ravn K; Chloupkova M; Christensen E; Brandt NJ; Simonsen H; Kraus JP; Nielsen IM; Skovby F; Schwartz M (July 2000). "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". American Journal of Human Genetics. 67 (1): 203–206. doi:10.1086/302971. PMC 1287078. PMID 10820128.
- ↑ 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. doi:10.1002/ajmg.c.30090. PMID 16602092.
- ↑ 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. doi:10.1177/088307389501000107. PMID 7769173.
- ↑ 5.0 5.1 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 Journal. 24 (11): 1168–1175. PMID 14647548.
- ↑ 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. PMC 1686010. PMID 7386459.