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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Propionicacidemia, a new inborn error of metabolism. Maintain a high index of suspicion for endocrine, immune, and renal problems and address accordingly.
In rare circumstances, specialized amino acid mixes with reduced content of isoleucine, valine, threonine and methionine are necessary.
A smaller percent of pathogenic variants affect subunit interactions, and thus, the assembly of the heterododecamer of PCC [ Desviat et al ]. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. Life-long post-transplant management is recommended [ Yorifuji et alVara et alKasahara et al ]. Unusual presentation of propionic acidaemia as isolated cardiomyopathy.
Propionic Acidemia – GeneReviews® – NCBI Bookshelf
The spectrum of propionic acidemia PA ranges from neonatal-onset to late-onset disease. Pancytopenia in propionic acidemia: Cardiomyopathy has been recognized as a common complication of PA. Prenatal diagnosis and family studies in a case of propionicacidaemia. In 8 other patients, alpha subunits were normal, but the beta subunits were aberrant; these patients were considered to have beta-subunit defects.
Pregnancy Management Although successful pregnancy outcomes have been reported in patients with PA [ Van Calcar et alLangendonk et al ], proplonica can pose a significant management challenge.
Orphanet: Acidemia propionica
Laboratory assessment of nutritional status calcium, phosphorus, albumin, prealbumin, plasma amino acids, vitamin levels [including thiamine and hydroxyvitamin D], iron panel, and minerals and renal function ; complete blood count to monitor for cytopenias.
No mutation was predominant in the Caucasian or Oriental populations studied.
Pregnancy-related propjonica of carnitine and acylcarnitine concentrations of plasma and erythrocytes. Other rarely reported complications include optic atrophy, hearing loss, premature ovarian insufficiency, and chronic renal failure.
Carrier Heterozygote Detection Molecular genetic testing. LeuPro which affect heterododecamer formation can result in undetectable PCC enzyme activity and severe phenotype [ Muro et al ]. Clinical Synopsis Toggle Dropdown. Among 15 Japanese patients with propionic acidemia, Ohura et al. In the post-partum period, increased caloric and protein needs during lactation should be taken into consideration. Most pathogenic variants are predicted to alter the active site and reduce the enzymatic activity.
The highest reported birth incidence is found among the Greenlandic Inuits: Multiple carboxylase deficiency biotinidase and holocarboxylase synthetase deficiencieswhich also shows elevation of lactic acid, 3-hydroxyvaleric acid and 3-methylcrotonylglycine caused by defective activity of pyruvate carboxylase, propionyl-CoA carboxylase, and 3-methylcrotonyl-CoA carboxylase. The target glucose infusion rates varies by age [ Baumgartner et al ]. Kinetic analysis genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts.
Strategies to achieve home management should be tailored for the conditions of each patient and family and may include the following:. Other search option s Alphabetical list.
Regular monitoring by a biochemical geneticist and a dietitian is necessary to avoid insufficient or excessive protein restriction. Clinically unstable individuals appear to be at higher risk of developing brain abnormalities. As a result, propionyl-CoApropionic acid, ketonesammoniaand other toxic compounds accumulate in the bloodcausing the signs and symptoms of propionic acidemia. 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 ].
Crystal structure of the alpha 6 beta 6 holoenzyme of propionyl-coenzyme A carboxylase.
This in turn causes an accumulation of dangerous acids and toxins, which can cause damage to the organs. Hyperammonemia is treated by administering sodium benzoate, carbamyl glutamate or by hemodialysis.
Orphanet J Rare Dis. Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias.
These patients are under the risk of severe hyperammonemia during infections that can lead to comatose states. Propionic acidemia associated with visual hallucinations. Chronic kidney disease in an adult with propionic acidemia. Prognosis Early detection and treatment has led to acideia reduction in the mortality rate in the first year of life and improved survival rates in early and mid-childhood but morbidity in terms of impaired cognitive development remains high.
Am J Hum Genet.