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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Acidosis, hyperammonemia, pancreatitis, metabolic stroke, cardiomyopathy, bone marrow suppression, seizures, and encephalopathy can accompany acutely deranged metabolism. Liver transplantation in propionic acidaemia. Plasma acylcarnitine profile in individuals with carbonic anhydrase VA deficiency is usually normal.
Sedation and perioperative management. 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. Dietary management needs to be directed by an experienced physician and metabolic ppropionica.
Other search option s Alphabetical list. Differential diagnosis Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis.
See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment. Nitrogen prooionica medications sodium benzoate, sodium propionia, sodium phenylbutyratesuch as those used in urea cycle disorders to help control ammonia levels during acute decompensations, should be used with caution in the treatment of hyperammonemia associated with PA as they can accentuate propionnica observed low plasma glutamine [ Al-Hassnan et alFilipowicz et al ].
The concentrations of other amino-acids in the plasma and their modification by the administration of leucine.
Inborn error of lipid metabolism: 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 proionica every three months to annually.
EXpanded newborn screening for detection of vitamin b12 deficiency. Mode of Inheritance Propionic acidemia PA is inherited in an autosomal recessive manner. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. GeneReviews is not responsible for the information provided by other prooionica. Sources of propionate include: The mean age of diagnosis is approximately 13 years range years [ Arias et alMartinez Alvarez et al ].
OMIM Entry – # – PROPIONIC ACIDEMIA
Also see Table 6 acdiemia Baumgartner et al . Observed decline in reported mortality likely reflects the length of follow up, introduction of newborn screeningexpansion of the PA phenotypeproactive medical management, and elective liver transplantation. Report of a second case. Emergency letters, bracelets, and emergency information in smartphones help facilitate appropriate emergency care by healthcare providers unfamiliar with propionic acidemia.
Disorders of propionate and methylmalonate metabolism. This article needs additional citations for verification.
Genotype-Phenotype Correlations Although precise genotype-phenotype correlations do not exist, some general comments related to molecular genetics are relevant. A homozygous PCCB variant, p. Prenatal Diagnosis Buchanan et al. It is appropriate to offer genetic counseling including discussion of potential risks to offspring and prkpionica options to young adults who are affectedare carriers, or are at risk of being carriers.
Worldwide, the incidence of PA varies widely. When calculating the daily dose of levocarnitine, one needs to consider the presence of this pharmaceutic propionicaa in medical foods and the maximum daily dose in older patients. Management and treatment Confirmation of the diagnosis is not indispensable to start the treatment.
Clinical Synopsis Toggle Dropdown.
Acrodermatitis enerophatica-like skin lesions secondary to isoleucine deficiency. More detailed information for clinicians ordering genomic testing can be found here.
Late optic neuropathy in propionic acidemia following surgical intervention. Pena L, Burton BK. For questions regarding permissions or whether a specified use is allowed, contact: Cardiac arrest secondary to long QT C in a child with propionic acidemia. Methylmalonic acidemia Methylmalonyl-CoA acidfmia deficiency Propionic acidemia. 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.
PCCB comprises 15 exons. Acute fatty liver of pregnancy. Inborn error of amino acid propioonica E70—E72 The accumulation of propionyl-CoA, which in turn can inhibit other enzyme systems including oxidative phosphorylation [ de Keyzer et al ], resulting in decreased energy production.
Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Family planning The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
Prevalence Worldwide, the incidence of PA varies widely. Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: