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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OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Expert curators review the literature and organize it to facilitate your work.
No mutation was predominant in the Acidemoa or Oriental populations studied.
Propionic Acidemia – GeneReviews® – NCBI Bookshelf
J Pediatr Hematol Oncol. Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia. Continuous hemofiltration, extracorporeal membrane oxygenation ECMO [ Sato et alKasahara et al ], and left ventricular assist devices have been used while waiting for OLT [ Ameloot et al ].
The highest reported birth incidence is found among the Greenlandic Inuits: Features of Neonatal-Onset Propionic Acidemia.
Propionic acidemia associated with visual hallucinations. Inborn error of amino acid metabolism E70—E72 Propionic acidemia in the Arab Propioica. Myelodysplastic changes in the bone marrow are uncommon [ Stork et alSipahi et al ]. The mean age of diagnosis is approximately 13 years range years [ Arias et alMartinez Alvarez et al ].
For information on selection criteria, click here. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. The biotin-dependent carboxylase deficiencies.
New splicing mutations in propionic acidemia. The authors emphasized the different molecular effects of splicing mutations and the possible phenotypic consequences. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Early and late complications after liver transplantation for propionic acidemia in children: The disorder has a severe phenotype in Saudi Arabia.
Sedation and perioperative management. Clinical applications of tandem mass spectrometry: Testing of urine organic acids in persons who are symptomatic or those detected by newborn screening reveals elevated 3-hydroxypropionate and the presence of acidemiq, tiglylglycine, propionylglycine, and lactic acid. Dextrose solutions exceeding the concentration of Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian propiinica.
Acidosis, hyperammonemia, pancreatitis, metabolic stroke, cardiomyopathy, bone marrow suppression, seizures, and encephalopathy can accompany acutely deranged metabolism. Risk to Family Members Parents of a proband The parents of an affected individual are obligate heterozygotes i.
Propionic acidemia PCC deficiency. Regular monitoring by a biochemical geneticist and a dietitian is necessary to avoid insufficient or excessive protein restriction.
Although precise genotype-phenotype correlations do not exist, some general comments related to molecular genetics are relevant.
Neonatal-onset propionic acidemia PA propionicca the most common clinical form of PA. Possible causes are numerous and may include the following:. Urine organic acid assay in individuals with carbonic anhydrase VA deficiency can reveal elevated 3-hydroxypropionic acid, propionylglycine, and methylcitric acid as well as 3-methylcrotonylglycine, 3-hydroxybutyric, alpha-ketoglutaric, and 3-hydroxyisovaleric acidema.
A smaller percent of pathogenic variants affect subunit interactions, and thus, the assembly of the heterododecamer of PCC [ Desviat et al ].
Orphanet: Acidemia propionica
Wolf and Afidemia suggested that biotin-responsiveness can be tested by measuring propionyl-CoA carboxylase and beta-methylcrotonyl CoA carboxylase see and in peripheral blood caidemia before and after biotin.
Serial single- gene testing can be considered if 1 mutation of a particular gene accounts for a large proportion of the condition or 2 factors such as clinical findings, laboratory findings, and ancestry indicate that mutation propioniva a particular gene is most likely.
In some individuals recurrent pancreatitis can lead to insulin-dependent diabetes. The toxic effects of free organic acids and ammonia. A series of pregnancies in women with inherited metabolic disease. The severe metabolic ketoacidosis in this disorder requires vigorous alkali therapy and protein restriction.
For an introduction to multigene panels click here. Propionic acidemia PA should be suspected in individuals with any of the following presentations.
University of Washington, Seattle; The goal of acute management is to reverse this process through promotion of anabolism and removal of toxic intermediates. Any injury, illness, hospitalization, or surgical procedure should involve consultation with the metabolic team. The treatment of individuals with acutely decompensated PA is a medical propioncia and requires a transfer to a center with biochemical genetics expertise and the ability to support urgent hemodialysis, especially if hyperammonemia is present.
Propionic acidemia PA is inherited in an autosomal recessive manner. Potential relationship between genotype and clinical outcome in propionic acidaemia patients. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: Lee et al .
Isolated case reports describe clinical findings that could be causally associated with propionic acidemia, but require further characterization: Carrier testing for at-risk family members is possible if the pathogenic variants in the family have been identified.
L-carnitine supplementation to enhance excretion of propionic acid and oral metronidazole to reduce propionate production by gut bacteria. Chronic management and health supervision of individuals propionoca propionic acidemia.
Prevention of secondary complications: