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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Dopamine beta hydroxylase deficiency reverse: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The metabolic evaluation of the child with an intellectual developmental disorder: Cardiomyopathies in propionic aciduria are reversible after liver transplantation. Broomfield et al [].


Nitrogen scavenger medications sodium benzoate, sodium phenylacetate, sodium phenylbutyratesuch as those used in urea cycle disorders to help control ammonia levels during acute decompensations, should be used with caution in the treatment of hyperammonemia associated with PA as they can accentuate frequently observed low plasma glutamine [ Al-Hassnan et alFilipowicz et al ].

Individuals with PA cannot perform this conversion because the enzyme propionyl-CoA carboxylase is nonfunctional. Genetic Counseling Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

In further studies on this patient, Brandt et al. Such testing may provide or suggest a diagnosis not previously considered e.


Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both in ammonia detoxification and glucose metabolism. No mutation was predominant in the Caucasian or Oriental populations studied.

Other search option s Alphabetical list. Severe illness caused by the products of bacterial metabolism in a child with a short gut. Am J Med Genet.

Unsourced material may be challenged and removed. This disorder is not acidsmia be confused with hereditary glycinuriawhich is presumably transmitted as a dominant. 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.

Propionic acidemiaalso known as propionic aciduriapropionyl-CoA carboxylase deficiency PCC deficiency and ketotic glycinemia[1] is a rare autosomal recessive metabolic disorderclassified as a branched-chain organic acidemia. CC ]. In the post-partum period, increased caloric and protein needs during lactation should be taken into consideration.

Propionic acidemia can present in one of the propionifa forms: InfancyNeonatal ICD The differential rates of synthesis of alpha and beta chains appear to account for the finding that persons heterozygous for pccBC mutations have normal carboxylase activity in their cells.

Propionic acidemia

Differential diagnosis includes neonatal sepsis, other branched chain organic acidurias, pyloric stenosis or other common causes of increased anion gap acidosis. Neonatal-onset PA, the most common form, is characterized by a healthy newborn with poor feeding and decreased arousal in the first few days of life, followed by progressive encephalopathy of unexplained origin.

Pitfalls in the prenatal diagnosis of propionic acidemia. The mainstay nutritional intervention is modification of diet to control the intake of propiogenic substrates isoleucine, valine, methionine, and threoninepropionicz ensuring normal protein synthesis and preventing protein catabolism, amino acid deficiencies, and growth restriction.

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Mitochondrial disorder may enter the differential diagnosis when individuals present with hyperammonemia, metabolic acidosis, ketonuria, and hypoglycemia [ Baumgartner et al ]. Some of the variants may have escaped detection by existing sequencing methods, but could have been detected by copy number analysis [ Kraus et al ]. Testing acidmia urine organic acids in persons who are symptomatic or those detected by newborn screening reveals elevated 3-hydroxypropionate and the presence of methylcitrate, tiglylglycine, propionylglycine, and lactic acid.

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Neurologic nonmetabolic presentation of propionic acidemia. 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.

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Regular monitoring by a biochemical geneticist and a dietitian is necessary to avoid avidemia or excessive protein restriction. Desviat et al [] reported that only 1.