Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic. The spectrum of propionic acidemia (PA) ranges from neonatal-onset to late- onset disease. A number sign (#) is used with this entry because propionic acidemia is caused by mutation in the genes encoding propionyl-CoA carboxylase, PCCA ().

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Unfortunately, it is not free to produce. Orthotopic liver transplantation OLT may be indicated in those individuals who, despite adequate medical treatment, still experience frequent metabolic decompensations, uncontrollable acidekia, and poor growth [ Barshes et alCharbit-Henrion et al ]. Ptopionica comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Developmental delays and neurologic dysfunction can be seen even in individuals without documented episodes of hyperammonemia or ketoacidosis [ North et alNyhan et alSchreiber et al ].

Propionic acidemia with myelodysplasia and neutropenia in a Turkish child.

Propionic Acidemia – GeneReviews® – NCBI Bookshelf

In rare circumstances, specialized amino acid mixes with reduced content of isoleucine, valine, threonine and methionine are necessary. Possible causes are numerous and may include the following:. Propionic acidemia PCC deficiency.

G-tube placement is an effective strategy to facilitate the administration of medications and nutrition during acute decompensations and to improve adherence in chronic management of PA. PMC ] [ PubMed: The volume, glucose content and electrolyte composition of intravenous fluids is determined by age, target glucose infusion rate, cardiovascular status, renal condition, and co-administration of other medications.


Common in Spanish populations [ Desviat et al avidemia. Propionic acidemia PA is an organic acidemia caused by deficiency of propionyl-CoA carboxylase PCCa biotin-dependent carboxylase located in the mitochondrial inner space.

Epilepsy in patients with propionic acidemia.

Three percent of reported variants in PCCB are deleterious copy number variants [ Desviat et alKraus et alChiu pgopionica al ]. Offspring of a proband. Life-long post-transplant management is recommended [ Yorifuji et alVara et alKasahara et al ]. High incidence of propionic acidemia in Greenland is due to a prevalent mutation, insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

Tests in Prooionica by Gene.

Propionic acidemia

Report of a second case. Neonatal-onset PA, the most common form, is characterized accidemia a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin.

High frequency of large genomic deletions in the Pgopionica gene causing propionic acidemia. Confirmation of the diagnosis is not indispensable to start the treatment. Webarchive template wayback links Articles needing additional references from August All articles needing additional references Infobox medical condition new Pages using infobox medical condition with unknown parameters Articles to be expanded from February All articles to be expanded Articles with empty sections from February All articles with empty sections Articles using small message boxes.


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For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use. Infectious complications of propionic acidemia in Saudia sic Arabia. In many countries, infants at risk for PA can be detected via newborn screening NBSalthough symptoms may be evident in the infant before NBS results are available.

If not constantly monitored, the effects would be devastating.

Genetic heterogeneity of propionic acidemia: Clinical applications of tandem mass spectrometry: Without prompt diagnosis and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma pripionica can result in death.

In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking. Disease definition Propionic acidemia PA is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

Propionida series of pregnancies in women with inherited metabolic disease. University of Washington, Seattle ;