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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Subacute presentation of propionic acidemia.
The family originally reported by Childs et al. J Inherit Metab Dis. Genetic counseling Inheritance is autosomal propionlca. The neuropathology of propionic acidemia. More detailed information for clinicians ordering genetic tests can be found here.
University of Washington, Seattle ; Management The optimal management of patients with propionic acidemia PA is best achieved propionjca a team comprising a physician with metabolic expertise, a dietician, and a genetic counselor. A series of pregnancies in women with inherited metabolic disease. Unfortunately, it is not free to produce.
The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of muscle tone. L-carnitine supplementation to enhance excretion of propionic acid and oral metronidazole to reduce propionate production by gut bacteria. The toxic effects of free organic acids acisemia ammonia. Factors predisposing to infectious complications were likely diverse and included bone marrow suppression, immune dysfunction instigated by propionic acid metabolites, indwelling catheters e.
Variants listed propionoca the table have been provided by the authors. In vivo propionate oxidation as a prognostic indicator in disorders of propionate propiohica.
Renal abnormalities have been infrequently documented and are likely underreported. Defective propionate carboxylation in ketotic hyperglycinaemia. Pancytopenia in propionic acidemia: If transition to enteral feedings within 48 hours is not possible, total parenteral nutrition is required.
No mutation was predominant in the Caucasian or Oriental populations studied.
Deficiency of propionyl-CoA carboxylase results in accumulation of propionic acid and propionyl-CoA related metabolites in plasma and urine, causing a wide range of laboratory test abnormalities Figure 1.
Whether a biotin-responsive form of PA exists is not known [ Baumgartner et al ].
proppionica Professionals Summary information Polskipdf Suomipdf Russianpdf Emergency guidelines Englishpdf Clinical practice guidelines English Clinical genetics review English Symptomatic cases present during metabolic decompensation with acidosis, ketosis, increased anion gap, hyperlactatemia, hyperglycinemia, hyperammonemia, hypoglycemia and cytopenias.
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
This disorder is not to be confused with hereditary glycinuriawhich is presumably transmitted as a dominant. Asymptomatic propionyl CoA carboxylase deficiency in a acidemla girl. Propionyl-CoA carboxylase beta chain, mitochondrial.
Some missense pathogenic variants PCCB p. Amino acid metabolism disorders Autosomal recessive disorders Rare diseases Fatty-acid metabolism disorders. Propionic acidemia presents with a wide spectrum of symptoms and age of onset. In the first few days of life, infants present with: In at least one acidenia with organic acidemia, propionic acid was misidentified as ethylene glycol [ Hoffman ]. In 8 other patients, alpha subunits were normal, but the beta subunits were aberrant; these patients were considered to have beta-subunit defects.
Testing of plasma amino acids reveals elevated glycine. Mode of Inheritance Propionic acidemia PA is inherited in an autosomal recessive aciidemia.
Orphanet: Acidemia propionica
The target glucose infusion rates varies by age [ Baumgartner et al ]. Usually, the glutamine levels in hyperammonemic patients with PA are normal or low [ Al-Hassnan et alFilipowicz et al ]. Gestational age-related reference values for amniotic fluid organic acids.