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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Diagnosis 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. Without prompt diagnosis and management, this is followed by progressive encephalopathy manifesting as lethargy, seizures, or coma that can result in death.
In 8 other patients, alpha subunits were normal, but the beta subunits were aberrant; these patients were considered to have beta-subunit defects. In individuals with equivocal molecular genetic test results, a combination of enzymatic and molecular diagnostics may be necessary. 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.
Maternal B 12 deficiency propioncia through elevated propionylcarnitine on the newborn screen can also present with elevated urinary methylmalonic acid and total plasma homocysteine in infant. This disorder is not to be confused with hereditary glycinuriawhich is presumably transmitted as a dominant. GeneReviews Advanced Search Help. For questions regarding permissions or whether a specified use is allowed, contact: To establish the extent of disease and needs of propiojica individual diagnosed with PA the following evaluations are recommended see Figure 2 if they have not already been completed:.
J Inherit Metab Dis. Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome: Prenatal diagnosis and family studies in a case of propionicacidaemia. Patients and care providers acidemja notify their medical team about new symptoms and discuss the appropriateness of home management. Common in Spanish populations [ Desviat et al ].
Wolf and Feldman considered it likely that the pccBC complementation group reflects mutations of the alpha subunit and the pccA group mutations of the beta subunit. More detailed information for clinicians ordering genomic testing can be found here. AsnAspis associated with high residual PCC activity.
Propionic acidemia – Wikipedia
Nitrogen scavenger medications sodium benzoate, sodium phenylacetate, sodium phenylbutyratesuch as those used in urea cycle disorders to help control ammonia levels during acute decompensations, acidwmia be used with caution in the treatment of hyperammonemia associated with PA as they can accentuate frequently observed low plasma wcidemia [ Al-Hassnan et alFilipowicz et al ].
Effect of oral antibiotics on intestinal production of propionic acid. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional.
Differential Diagnosis Elevated C3 propionylcarnitine on newborn screening can be caused by methylmalonic acidemias resulting from methylmalonyl-CoA mutase deficiencydisorders of intracellular cobalamin metabolism and maternal B 12 deficiency.
Both dilated and hypertrophic cardiomyopathy have been reported [ Romano et al ]. Propionic acidemia associated with visual hallucinations. Offspring of a proband. ArgCysand p. Acute decompensation can be precipitated by metabolic stressors including infection, injury, or surgery.
Among 15 Japanese patients with propionic acidemia, Ohura et al. Individuals with PA cannot propinica this conversion because the enzyme propionyl-CoA carboxylase is nonfunctional.
Views Read Edit View acifemia. Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. Birth, infections, trauma, surgery, postpartum recovery, or other forms of stress and hormonal changes can result in a catabolic response that leads, among other things, to protein breakdown with release of propiogenic amino acids that cannot be metabolized in PA.
Differential diagnosis includes neonatal propionicz, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis.
See also Table 3b. AsnAsp have been associated with a less severe phenotype. Rousson R, Guibaud P. Factors predisposing to infectious complications were likely diverse and included bone marrow suppression, immune dysfunction instigated by propionic acid metabolites, indwelling catheters e. Clinical manifestations of PA are often nonspecific and age of onset is variable. In a male Pakistani offspring of first-cousin parents, Gompertz et al.
Management The optimal management of patients with propionic acidemia PA is best achieved by a team comprising a physician with metabolic expertise, a dietician, and a genetic counselor. Specialised Social Services Eurordis directory. Propionic acidemia PCC deficiency. For a discussion regarding the use of sodium benzoate versus sodium phenylacetate and sodium phenylbutyrate in propionic acidemia see Baumgartner et al . Oral metronidazole has been shown to reduce propionic acid production by intestinal gut flora [ Thompson et alMellon et al ].
Elevated C3 propionylcarnitine on newborn screening can be caused by methylmalonic acidemias resulting from methylmalonyl-CoA mutase deficiencydisorders of intracellular cobalamin metabolism and maternal B 12 deficiency. Revision History 6 October ha Comprehensive update posted live.
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.
The phenotypic spectrum of organic acidurias and urea cycle disorders. The authors emphasized the different molecular effects of splicing mutations and the possible phenotypic consequences. Prenatal Diagnosis Buchanan et al. Ina male child was born with poor mental development, repeated attacks of acidosis, and high levels of ketones and glycine in the blood.