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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The neuropathology of propionic acidemia. Urine analysis by gas chromatography-mass spectrometry reveals a characteristic pattern with 3 hydroxy propionate, methyl citrate, propionyl glycine and propionyl carnitine that persists in between crisis.

Crystal structure of the alpha 6 beta 6 holoenzyme of propionyl-coenzyme A carboxylase. Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis. Sources of propionate include: Clinical evaluation should include assessment of the following: Contamination by maternal cells can give a normal value for the latter determination; propionifa assay may be the most reliable approach.

Propionic acidemia

In many cases, PA can damage the brain, heart, and liver, cause seizures, and delays to normal development like walking and talking. Strategies to achieve home management should be tailored for the conditions of each patient and family and may include the following:.


Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress e. A critical reappraisal of dietary practices in propioonica acidemia raises concerns about the safety of medical foods.

Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

CC ]. The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: Expert curators review the literature and organize it to facilitate your work. The same condition was described by Hommes et al. Outstanding chemical features are hyperglycinemia and hyperglycinuria. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia.

More detailed information for clinicians ordering genomic testing acidemix be found here.

Propionic acidemia – Wikipedia

A smaller percent of pathogenic variants affect subunit interactions, and thus, the assembly of the heterododecamer of PCC [ Desviat et al ]. The effects of excessive protein restriction can include impaired growth, essential amino acid deficiencies, and metabolic decompensations.

The use acidemi intravenous insulin drip may be needed to maintain euglycemia and promote anabolism. Pregnancy Management Although successful pregnancy outcomes have been reported in patients with PA [ Van Calcar et alLangendonk et al ], pregnancy can pose a significant management challenge.


Maternal B 12 deficiency identified through elevated propionylcarnitine on the propionca screen can also present with elevated urinary methylmalonic acid and total plasma homocysteine in infant. Long term outcome of organic acidurias: From kinetic analysis of complementations in heterokaryons of propionyl CoA carboxylase-deficient fibroblasts, Wolf et al.

Worldwide, the incidence of PA varies widely. 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. The family originally reported by Childs et al. Many factors should be taken into account to guide protein restriction: Propionic acidemia PA is inherited in an autosomal recessive manner.

It does not completely protect against a metabolic stroke, hyperammonemia, or metabolic decompensations. Propionyl-CoA is common to the pathway for degradation of some amino acids isoleucine, valine, threonine, and methionineodd-chain fatty acids, and cholesterol.