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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Propionic Acidemia – GeneReviews® – NCBI Bookshelf
If transition to enteral feedings within 48 hours is not possible, total parenteral nutrition is required. Laboratory assessment of nutritional status calcium, phosphorus, albumin, prealbumin, plasma amino acids, vitamin levels [including thiamine and hydroxyvitamin D], iron panel, and minerals and renal function ; complete blood count to monitor for acidemis. Inthe medical team at Johns Hopkins Hospital in BaltimoreMaryland published the case, calling the disorder ketotic hyperglycenemia.
Propionic acidemia with myelodysplasia and neutropenia in a Turkish child. 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 ].
Reference ranges for total and free plasma carnitine differ during pregnancy [ Schoderbeck et al ]. Individualized dietary management should be directed by an experienced physician and metabolic dietician to control the intake of propiogenic substrates and to guide increased caloric intake during illness to prevent catabolism. In many countries, infants at risk for PA can be detected via newborn screening NBSalthough symptoms may be evident in the infant before NBS results are available.
Clinical evaluation should include assessment of the following: In another case, ethylene glycol poisoning presented with hyperglycinemia and glycolic acid in urine [ Woolf et al ]. Establishing the Diagnosis In a proband who has the clinical, laboratory, and biochemical findings reviewed above and in Figure 2the diagnosis of PA is established using the following aicdemia. Both dilated and hypertrophic cardiomyopathy have been reported [ Romano et al ].
Orphanet: Acidemia propionica
Symptoms include poor feeding, vomitingdehydrationacidosislow muscle tone hypotoniaseizures, and lethargy. CC HPO: Brain MRI findings include delayed myelination, white matter changes, basal ganglia abnormalities, cerebellar hemorrhage, and cerebral atrophy [ Schreiber et al ]. The same condition was described by Hommes et al. Although successful propionicaa outcomes have been reported in patients with PA [ Van Calcar et alLangendonk et al ], pregnancy can pose a significant management challenge.
Propionic acidemia is inherited in an autosomal recessive manner. Individuals with late-onset PA may remain asymptomatic and suffer a metabolic crisis under catabolic stress e.
Cerebellar hemorrhage has been described in all 3 disorders, and basal ganglia ischemic stroke has been described in propionic aciduria and methylmalonic aciduria. Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis. Isolated case reports describe clinical findings that could be causally associated with propionic acidemia, but require further characterization: Growth is regularly monitored.
Mode of Inheritance Propionic acidemia PA is inherited in an autosomal recessive manner. Some missense pathogenic variants PCCB p. 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.
It confers a lower risk of developing metabolic crisis, but can lead to late-onset cardiomyopathy. Prevention of primary manifestations: AsnAsp have been associated with a less severe phenotype.
Poisoning and child abuse. From kinetic analysis of complementations in heterokaryons of propionyl CoA carboxylase-deficient fibroblasts, Wolf et propilnica. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
Dietary needs must be closely managed by a metabolic geneticist or metabolic dietician. Living-donor liver transplantation for propionic acidemia. Subacute presentation of propionic acidemia.
In patients with QT abnormalities, avoid medications that can prolong the QT interval. Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation.