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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Vomiting, protein intolerance, failure to thrive, hypotonia, developmental regression, movement disorders. Diagnostic methods Extended newborn screening test identifies PA by detecting an elevated level of propiohica carnitine.
Acidemia propionica by on Prezi
Evaluation of Relatives at Risk Testing of at-risk sibs is warranted to allow for early diagnosis and treatment. Methods that may be used can include: Molecular testing approaches can include serial single- gene testinguse of a multigene paneland more comprehensive genomic testing:.
Pitfalls in the prenatal diagnosis of propionic acidemia. The presence of elevated 3-hydroxypropionic with acidekia without methylcitric acid on the urine organic acid assay should prompt additional diagnostic considerations: Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder. Patients with propionic acidemia should be started as early as possible on a low protein diet.
Variant designation that does not conform to current naming conventions. 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.
This disorder is not to be confused with hereditary glycinuriawhich is presumably transmitted as a dominant.
There is no consensus regarding the use of biotin supplementation nor the optimal dose in the treatment of PA. Parenteral amino acid solutions are prescribed based on the recommended daily intake of age-appropriate energy, protein, isoleucine, valine, methionine, and threonine and adjusted using the daily and weekly growth data and plasma amino acid concentrations. Genes and Databases for chromosome locus and protein. Renal function propioniva serum cystatin C can be more sensitive than plasma creatinine in identifying early evidence of chronic renal failure.
Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease. Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both in ammonia detoxification and glucose metabolism. Linear growth, weight gain, head circumference, and body mass index.
Individualized dietary management should be directed by acidemiia experienced physician and metabolic dietician to control the intake of propiogenic substrates and to guide increased caloric intake during illness to prevent catabolism.
In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking. Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Propionic acidemia is characterized almost immediately in newborns.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Journal of Child Neurology.
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Propionic acidemiaalso known as propionic aciduriapropionyl-CoA carboxylase deficiency PCC deficiency and ketotic glycinemia is a rare autosomal recessive metabolic disorderclassified as a branched-chain organic acidemia.
Propionic Acidemia – GeneReviews® – NCBI Bookshelf
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. The defect was found to acidemiaa mitochondrial propionyl-CoA carboxylase. PMC ] [ PubMed: Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
In vivo propionate oxidation as a prognostic indicator in disorders of propionate metabolism. D ICD – Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: Orphanet J Rare Dis. Acidsmia microorganisms implicated were unusual, suggesting an underlying immune deficiency.