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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Worldwide, the incidence of PA varies widely.
Please consider making a donation now and again in the future. Clinical assessment of growth parameters, ability to feed, the need for G-tube placement, and neurologic status. Chronic management and health supervision of individuals with propionic acidemia. This article needs additional citations for verification.
Risk to Family Members Parents of a proband The parents of an affected individual are obligate heterozygotes i. Neurologic considerations in propionic acidemia.
Disease definition 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.
Clear Turn Off Turn On. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Myelodysplastic changes in acidfmia bone marrow are uncommon [ Stork et alSipahi et al ]. Neurologic nonmetabolic presentation of propionic acidemia. For a detailed summary of gene and protein information, see Table AGene.
Failure to thrive may be propiohica by malnutrition secondary to feeding difficulties, recurrent emesis, excessive protein restriction and potentially iatrogenic amino acid imbalances [ Manoli et al ].
Inborn error of lipid metabolism: Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme. Mitochondrial disorder may enter the differential diagnosis when individuals present with hyperammonemia, metabolic acidosis, ketonuria, and hypoglycemia [ Baumgartner et al accidemia.
Individuals with PA cannot perform this conversion because the enzyme propionyl-CoA carboxylase is nonfunctional. Prevention of primary manifestations: Diagnostic methods Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine.
Propionic acidemia – Wikipedia
Surveillance The following evaluations are performed at different intervals depending on factors such as age, disease severity, and presence of catabolic stressors; evaluation frequency can range from every three months to annually. New splicing mutations in propionic acidemia. Although successful pregnancy outcomes have been reported in patients with PA [ Van Calcar et alLangendonk et al ], pregnancy can pose a significant management challenge.
Use of QT-prolonging medications in US emergency departments, Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: The family originally reported by Childs et al.
Propionic Acidemia – GeneReviews® – NCBI Bookshelf
Oral metronidazole has been shown to reduce propionic acid production by intestinal gut flora [ Thompson et alMellon et al ]. Involvement of a metabolic specialist perioperatively to ensure adequate hydration and caloric management can help minimize the risk of decompensations. 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.
Propionic acidemia is propioncia in an autosomal recessive pattern and is found in about 1 in 35,  live births in the United States. Factors predisposing to infectious complications were likely diverse and included bone marrow suppression, immune dysfunction instigated by propionic acid metabolites, indwelling catheters e.
You can help by adding to it. 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 of a particular gene is most likely.
Consistent evaluation of the protein intake, depending on age, acidejia, severity of disorder and presence of other factors such as intercurrent illness, surgery, level of physical activity, and growth spurts to avoid insufficient or excessive protein restriction.
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Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome: Desviat et al . Inborn error of amino acid metabolism E70—E72 Gestational age-related reference values for amniotic fluid organic acids. Check this box if you wish to receive a copy of your message. The infections occurred despite aggressive treatment with appropriate diets, carnitine, and, during acute episodes of the disease, with metronidazole, which suggested a global effect of the disease on T and B lymphocytes as well as on the bone marrow cells.
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