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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Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
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The differential rates of synthesis of alpha and beta chains appear to account for the finding that persons heterozygous for pccBC mutations have normal carboxylase activity in their cells. Intellectual disability, optic neuropathy, cardiomyopathy, long QT syndrome, pancreatitis, dermatitis, and immune dysfunction are known complications. GAMT deficiency Glycine encephalopathy.
The pathogenic variant c. GeneReviews staff have not independently verified the classification of variants.
TyrCyshas been detected in apparently asymptomatic or mildly affected children identified through newborn screening in Japan [ Yorifuji et al ]. Testing Newborn screening NBS. This disorder is not to be confused with hereditary glycinuriawhich is presumably transmitted as a dominant. Symptoms include poor feeding, vomitingdehydrationacidosislow muscle tone hypotoniaseizures, and lethargy. Clinical Synopsis Toggle Dropdown.
American Journal of Human Genetics.
No mutation was predominant in the Acidemi or Oriental populations studied. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Family planning The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
Propionic acidemia PA is an organic acidemia caused by deficiency of propionyl-CoA carboxylase PCCa acidfmia carboxylase located in the mitochondrial inner space.
Propionic acidemia PA should be suspected in individuals proppionica any of the following presentations. Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine.
See Quick Reference for an explanation of nomenclature. Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both in ammonia detoxification and acidejia metabolism.
Bacterial overgrowth including Propionibacterium or Lactobacterium or short gut syndrome [ Haan et acidemiw ]. The effects of propionic acidemia quickly become life-threatening.
Benefits of OLT include decrease in the frequency of metabolic decompensations, improved quality-adjusted life years, increased life expectancy, life-time cost savings [ Vara et alLi et al ], and reversal of dilated cardiomyopathy [ Yorifuji et alRomano et al ]. University of Washington, Seattle ; 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.
Orphanet: Acidemia propionica
Inborn error of amino acid metabolism E70—E72 DNA banking is the storage of DNA typically extracted from white blood cells for possible future use. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. The number of other cases of organic acidemias observed during the same period was Cardiac arrest secondary to long QT C in a child with propionic acidemia. Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Nitrogen scavenger medications sodium benzoate, sodium phenylacetate, sodium phenylbutyratesuch as those used in urea prpoionica disorders to help control ammonia levels during acute decompensations, should be used with caution in the treatment of hyperammonemia associated with PA as they can accentuate frequently observed low plasma glutamine [ Al-Hassnan et alFilipowicz et al ].
Laboratory assessment of nutritional status calcium, phosphorus, albumin, prealbumin, plasma amino propionkca, vitamin levels [including thiamine and hydroxyvitamin D], iron panel, and minerals and renal function ; complete blood count to monitor for cytopenias.
The accumulation of propionyl-CoA, which in turn can inhibit other enzyme systems including oxidative phosphorylation [ de Keyzer et al ], resulting in decreased energy production.