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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Suggestive Findings Propionic acidemia PA should be suspected in individuals with any of the following presentations. When calculating the daily dose of levocarnitine, one needs to consider the presence of this pharmaceutic compound in medical foods and the maximum daily dose in older patients. Clinical outcome and long-term management of 17 patients with propionic acidaemia. The number of other cases of organic acidemias observed during the same period was Usually, the glutamine levels in hyperammonemic patients with PA are normal or low [ Al-Hassnan et alFilipowicz et al ].

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.

OMIM is intended acdemia use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Consistent evaluation of the protein intake, depending on age, gender, severity of disorder and presence of other factors such as intercurrent illness, surgery, level of physical activity, and growth spurts to avoid insufficient or excessive protein restriction.

More detailed information for clinicians ordering genomic testing can be found here. InfancyNeonatal ICD Journal of Child Neurology. Propionic acidemia is inherited in an autosomal recessive manner.

While most centers would consider decisions regarding prenatal acidsmia to be the choice of the parents, discussion of these issues is appropriate. Manifestations of neonatal and late-onset PA acide,ia time can include growth impairment, intellectual disability, seizures, basal ganglia lesions, pancreatitis, and cardiomyopathy.


Propionic acidemia

Localisation of enzymic defect in propionicacidaemia. The features of propionic acidemia are episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance acidema protein. Once the PCCA or PCCB pathogenic variants have been identified in an affected family ppropionica, prenatal testing for a pregnancy at increased risk for PA and preimplantation genetic diagnosis are possible [ Alberola et al ].

In the post-partum period, increased caloric and protein needs during lactation should be taken into consideration. Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both in ammonia detoxification and glucose metabolism.

A homozygous Acideia variant, p. EXpanded newborn screening for detection of vitamin b12 deficiency. A less severe form of PA is seen in some Amish and Mennonite communities. The highest reported birth incidence is found among the Greenlandic Inuits: See Table 3a pdf proppionica Table 3b pdf for a summary of major clinical findings in propionic acidemia PA and the reported frequency of symptoms. 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.

In the severe neonatal onset form, the affected infants present with symptoms of metabolic intoxication poor feeding, vomiting, altered sensorium and pancytopenia within several hours to weeks after birth.

Genotype-Phenotype Correlations Although precise genotype-phenotype correlations do not exist, some general comments related to molecular genetics are relevant. Acute management of propionic acidemia.

Propionic Acidemia – GeneReviews┬« – NCBI Bookshelf

Genes and Databases for chromosome locus and protein. May 17, ; Last Update: Proiponica search option s Alphabetical list.

Testing of at-risk sibs of a patient is warranted to allow for early diagnosis and treatment. Summary and related texts. Reversal of catabolism by stopping protein intake and administering non-protein calories in the form of intravenous fluids is the mainstay of treatment of a crisis.


The etiology of hepatic dysfunction has not been determined with certainty but may include the inherent metabolic derangement as well as cardiac dysfunction in individuals with cardiomyopathy.

Extended newborn screening test identifies PA by detecting an elevated level of propionyl carnitine. Involvement of a metabolic specialist perioperatively to ensure adequate hydration and caloric management can help minimize the risk of decompensations.

From kinetic analysis of complementations in heterokaryons of propionyl CoA carboxylase-deficient fibroblasts, Wolf et al. PA confers a high risk of mortality.

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Cardiomyopathy can occur as an apparently isolated clinical phenomenon in previously healthy individuals without documented episodes aciemia metabolic decompensation or neurocognitive deficits [ Lee et alLaemmle et al ].

Am J Med Genet. Tests in GTR by Gene. 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. PCCA is composed of 24 exons. Nomenclature Propionic acidemia and propionyl-CoA carboxylase deficiency are the two most common propiohica used to describe the condition. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.

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. Long term outcome of organic acidurias: Parenteral amino acid solutions are prescribed based on the recommended daily intake of age-appropriate energy, protein, isoleucine, valine, methionine, and threonine and adjusted using the daily and weekly growth data and plasma amino acid concentrations.

Cardiomyopathy has been recognized as a common complication of PA.