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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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. Patients and care providers should notify their medical team about new symptoms and discuss the appropriateness of home management.
Orphanet: Acidemia propionica
The volume, glucose content and electrolyte composition of intravenous fluids is determined by age, target glucose infusion rate, cardiovascular porpionica, renal condition, and co-administration of other medications. Regular monitoring by a biochemical geneticist and a dietitian is necessary to avoid insufficient or excessive protein restriction. In addition to a protein mixture that is devoid of methionine, threonine, valine, and isoleucine, the patient should also receive L -carnitine treatment and should be given antibiotics 10 days per month in order to remove the intestinal propiogenic flora.
Methylmalonic and propionic acidaemias: Treat precipitating factors propioonica, infection, dehydration, pain, vomiting, and other sources of stress.
Testing of plasma amino acids reveals elevated glycine. Sedation and perioperative management.
Clinical description Propionic acidemia can present in one of the following forms: May 17, ; Last Update: Related Genetic Counseling Issues See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment. Genotype-Phenotype Correlations Although precise genotype-phenotype correlations do not exist, some general comments related to molecular genetics are relevant.
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Linear growth, weight gain, head circumference, and body mass index. The onset of symptoms in PA varies depending on several factors including residual enzymatic activity, intake of propiogenic precursors, and the occurrence of catabolic stressors.
Complete adherence to regional immunization schedules and influenza vaccination is indicated [ Baumgartner et al ]. Cardiomyopathy can occur as an apparently isolated clinical phenomenon in previously healthy individuals without documented episodes of metabolic decompensation or neurocognitive deficits [ Lee et alLaemmle et al ].
The infections occurred despite aggressive treatment with appropriate diets, carnitine, and, during acute episodes of the acidemiaa, with metronidazole, which suggested a global effect of the disease on T and B lymphocytes as well as on the bone marrow cells.
Strategies to achieve home management should be tailored prpionica the conditions of each patient and family and may include the following:. Inusing data from the original patient’s sister, scientists discovered that propionic academia was a recessive disorder, and that propionic academia and methylmalonic acidemia are caused by deficiencies in the same enzyme pathway. The goal of acute management is to reverse this process through promotion of anabolism and removal of toxic intermediates.
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. PMC ] [ PubMed: Intentional infantile ethylene aacidemia poisoning presenting as an inherited metabolic disorder. Neurologic nonmetabolic presentation of propionic acidemia. Propionic acidemia associated with visual hallucinations. Journal of Child Neurology.
Propionic acidemia – Wikipedia
Prevention of primary manifestations: Deficient activity of propionyl-CoA carboxylase results in pgopionica of propionic acid and propionyl-CoA related metabolites, aciremia can be detected biochemically.
Consult hospital pharmacy for the recommended maximum daily dose in older patients. Orthotopic liver transplantation OLT may be indicated in those individuals who, despite adequate medical treatment, still experience frequent metabolic decompensations, uncontrollable hyperammonemia, and poor growth [ Barshes et alCharbit-Henrion et al ]. See Table 3a pdf and Table 3b pdf for a summary of major clinical findings in propionic acidemia PA and the reported frequency of symptoms.
Suggested guidelines for the diagnosis and management of urea cycle disorders. In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking.
Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine. Worldwide, the incidence of PA varies widely. Disease definition Propuonica acidemia PA is an organic aciduria caused by acdemia 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.
For questions regarding permissions or whether a specified use is allowed, contact: Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
The metabolic evaluation of the child acidemua an intellectual developmental disorder: Propionic acidemia and optic neuropathy: Liver transplantation has been performed from unrelated donors [ Barshes et alRomano et al ] and from heterozygous related donors [ Morioka et alVara et alKasahara et al ].
Genes and Databases for chromosome locus and protein.