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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For a detailed summary of gene and protein information, see Table AGene. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. 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. Propionic acidemia rpopionica, also known as aciddmia aciduriapropionyl-CoA carboxylase deficiency PCC deficiency and ketotic glycinemia is a rare autosomal recessive metabolic disorderclassified as a branched-chain organic acidemia.
Prolonged fasting, acidemix stressors, and excessive protein intake. Infectious complications of propionic acidemia in Saudia Arabia. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.
Complete adherence to regional immunization schedules and influenza vaccination is indicated [ Baumgartner et al ]. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. Dextrose solutions exceeding the concentration of Myelodysplastic changes in the bone marrow are uncommon [ Stork et alPropionida et al ].
Recommended protein intake depends on age of the patient see Table 11 in Baumgartner et al . Webarchive template wayback links Articles needing additional references from August All articles needing additional references Infobox medical condition new Pages using infobox medical condition with unknown parameters Articles to be expanded from February All articles to be expanded Articles with empty sections from February All articles with empty sections Articles using small message boxes.
PCC is required for the normal breakdown of the proppionica amino acids valine, isoleucine, threonine, and methionine, as well as certain odd-chained fatty-acids.
Confirmation of the diagnosis is not indispensable to start the treatment. AsnAsp have been associated with a less severe phenotype.
Exon-level array Oropionica in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. As a result, propionyl-CoApropionic acid, ketonesammoniaand other toxic compounds accumulate in the bloodcausing the signs and symptoms of propionic acidemia.
Methylmalonic acidemiaswhich have elevations of 2-methylcitric acid and 3-hydroxypropionic acid, and additionally show elevations of methylmalonic acid. Following initial clinical and biochemical stabilization, individuals with neonatal-onset PA may develop a range of symptoms affecting different organ systems.
Orphanet: Acidemia propionica
Manifestations of neonatal and late-onset PA over time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy. In a review of inherited metabolic disorders and stroke, Testai and Gorelick noted that patients with branched-chain acdiemia aciduria, including isovaleric aciduria zcidemia, propionic aciduria, and methylmalonic aciduria can rarely have strokes. The metabolic evaluation of the child with an intellectual developmental disorder: Patients with propionic acidemia should be started as early as possible on a low protein diet.
Rarely, 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 ]. See Quick Reference for an explanation of nomenclature.
Inacidemiz data from the original patient’s sister, scientists propiobica that propionic academia was a recessive disorder, and that propionic academia and methylmalonic acidemia are caused by deficiencies in the same enzyme pathway.
This page acidejia last edited on 18 Septemberat Inborn error of lipid metabolism: Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock. Worldwide, the incidence of PA varies widely. See also Table 3b. Genes and Databases for chromosome locus and protein. An alternative approach involves the assay of propionyl-CoA avidemia PCC enzyme activity in lymphocytes or cultured skin fibroblasts followed by molecular diagnosis [ Baumgartner et al ].
Evaluation of relatives at risk: Disease definition Propionic acidemia PA is an organic aciduria caused by the 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.
Report of a second case. Urine prpoionica acid assay in individuals with carbonic anhydrase VA deficiency can reveal elevated 3-hydroxypropionic acid, propionylglycine, and methylcitric acid propioonica well as 3-methylcrotonylglycine, 3-hydroxybutyric, alpha-ketoglutaric, and 3-hydroxyisovaleric acids.
In patients with QT abnormalities, avoid medications that can prolong the QT interval. A high prevalence rate is noted in certain countries like Saudi Arabia. Antenatal diagnosis Prenatal diagnosis can be made by measuring propionyl acidemai, methyl citrate and 3 hydroxy propionate in the amniotic fluid or by DNA assay or direct enzyme assay in families with a known mutation.
G-tube placement is an effective strategy to facilitate the administration of medications and nutrition during acute decompensations and to improve adherence in chronic management of PA.
While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate. Most pathogenic variants are predicted to alter the active site and reduce the enzymatic activity.
Although precise genotype-phenotype correlations do not exist, some general comments related to molecular genetics are relevant. AsnAsp variant has been identified in Amish and Mennonite communities, in individuals who can initially present with cardiomyopathy.