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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Inthe medical team at Johns Hopkins Hospital in BaltimoreMaryland published the case, calling the disorder ketotic hyperglycenemia. Suggested guidelines for the diagnosis and management of urea cycle disorders. InfancyNeonatal ICD Prenatal Diagnosis Buchanan et al.

Propionic acidemia

For a discussion regarding the use of sodium benzoate pripionica sodium phenylacetate and sodium phenylbutyrate in propionic acidemia see Baumgartner et al []. For issues to consider in interpretation of sequence analysis results, click here. Clinical applications of tandem mass spectrometry: Idiopathic hyperglycinemia and hyperglycinuria: This section is empty.

Magnetic resonance spectroscopy MRS can reveal decreased myoinositol, N-acetylaspartate and elevated Glx glutamine, glutamate, and gamma-aminobutyric acid peaks in basal ganglia [ Bergman et al ]. ArgCysand p.

Orphanet: Acidemia propionica

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Increased frequency of miscarriages of affected fetuses is possible [ Ottolenghi et al ]. Data are compiled from the following standard references: The phenotypic spectrum of organic acidurias and urea cycle disorders.


The toxic effects of free organic acids and ammonia. If prenatal testing has not been performed on at-risk sibs, measure urine organic acids, plasma amino acids, and acylcarnitine profile immediately in the newborn period in parallel with newborn screening.

Clinical manifestations of PA are often nonspecific and age of onset is variable. Testing of urine organic acids in persons who are symptomatic or those detected by newborn screening reveals elevated 3-hydroxypropionate and the presence of methylcitrate, tiglylglycine, propionylglycine, and lactic acid. Early clinical manifestations of cardiomyopathy include tachypnea, hepatomegaly, hypotension, tachycardia, or bradycardia.

For all other comments, please send your remarks via contact us. Similar to other inborn errors of metabolism, care should be exercised when using antipsychotic medications as they can mask clinical signs of encephalopathy or cause adverse effects.

Common in Japan avidemia Yang et al ]. Upon dietary testing, Dr. Pregnancy Management Although successful pregnancy outcomes have been reported in patients with PA [ Van Calcar et alLangendonk et al ], pregnancy can pose a significant management challenge.

In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication poor feeding, vomiting, altered sensorium and pancytopenia within several hours to weeks after birth. Evaluation and management of patients with propionic acidemia undergoing liver transplantation: Emergency letters, bracelets, and emergency information in smartphones help facilitate appropriate emergency care by healthcare providers unfamiliar with propionic acidemia.


Molecular testing approaches can include serial single- gene testinguse of a multigene paneland more comprehensive genomic testing:. OLT in patients with PA is not curative. Eur J Hum Genet.

Jameson E, Walter J. Clinical description Propionic acidemia can present in one of the following forms: Experience in 30 patients.

Observed decline in reported mortality likely reflects the length of follow up, introduction ackdemia newborn screeningexpansion of the PA phenotypeproactive medical management, and elective liver transplantation. Inusing data from the original patient’s sister, scientists discovered that propionic academia was a recessive disorder, and that propionic academia and methylmalonic acidemia are caused by deficiencies in the same enzyme pathway.

Alternatively, it may relieve intracellular coenzyme A accretion and provide a benefit through this mechanism.

Genetic heterogeneity of propionic acidemia: Living-donor liver transplantation for propionic acidemia.

Propionic acidemia PA is caused by deficiency of the mitochondrial multimeric enzyme propionyl-CoA carboxylase that catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA.