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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CC HPO: C ] – Two complementation groups – pccA secondary to defects in the alpha chain of PCC, and pccBC aciemia to defects in the beta subunit of PCC, – Course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation [UMLS: The features of propionic acidemia are episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Outstanding chemical features are hyperglycinemia and hyperglycinuria. This disorder is not to be confused with hereditary glycinuriawhich is presumably transmitted as a dominant.

Propionic acidemia

In a second group of patients whose disorder is also termed hyperglycinemia, ketoacidosis, neutropenia, and thrombocytopenia have not been observed and glycine is the only amino acid present in excess in serum and urine; see glycine encephalopathy In further studies on this patient, Brandt et al.

The family originally reported by Propioniva et al. In a male Pakistani offspring of first-cousin parents, Gompertz et al. A sib had died at 2 weeks of age with metabolic acidosis and ketonuria. The defect was found to involve mitochondrial propionyl-CoA carboxylase. The same acjdemia was described by Hommes et al. Al Essa et al. Propionic acidemia is unusually frequent in Saudi Arabia, with a frequency of 1 in 2, to 1 in 5, depending on the region.

The disorder has propionca severe phenotype in Saudi Arabia. The number acidemmia other cases of organic acidemias observed during the same period was Longitudinal data, in some instances up to 8 years, were available for 38 patients with propionic acidemia.

Most microorganisms implicated were unusual, suggesting an underlying immune deficiency. The infections occurred despite aggressive treatment with appropriate diets, carnitine, and, during acute episodes of the disease, with metronidazole, which suggested a global effect of the disease on T and B lymphocytes as well as on the bone marrow cells.


In a review of inherited metabolic disorders and stroke, Testai and Gorelick noted that patients with branched-chain organic aciduria, including isovaleric aciduriapropionic aciduria, and methylmalonic aciduria can rarely have strokes. Cerebellar hemorrhage has been described in all 3 disorders, and basal ganglia ischemic stroke has been described in propionic aciduria and methylmalonic aciduria.

These events may occur in the absence of metabolic decompensation. Wolf and Hsia suggested that biotin-responsiveness can be tested by measuring propionyl-CoA carboxylase and beta-methylcrotonyl CoA carboxylase see and in peripheral blood leukocytes before and after biotin. From kinetic analysis of complementations in heterokaryons of propionyl CoA carboxylase-deficient fibroblasts, Wolf et al. Wolf and Feldman considered it likely that the pccBC complementation group reflects mutations of the alpha subunit and the pccA group mutations of the beta subunit.

In pccA patients, the primary defect in alpha-chain synthesis leads secondarily to degradation of normally synthesized beta chains. 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.

Among 15 Japanese patients with propionic acidemia, Ohura et al. In 8 other patients, alpha subunits were normal, but the beta subunits were aberrant; these patients were considered to have beta-subunit defects. One of the 15 patients had apparently normal alpha and beta subunits. Contamination by maternal cells can give a normal value for the latter determination; methylcitrate assay may be the most reliable approach.

The severe metabolic ketoacidosis in this disorder requires vigorous alkali therapy and protein restriction. Oral antibiotic therapy to reduce gut propionate production may also prove useful Fenton et al. Van Propinica et al. They gave detailed information prropionica her pregnancy, which resulted in the birth of a healthy infant.

A total of 24 PCCA mutations had been reported, mostly missense point mutations and a variety of splicing defects. No mutation was predominant in the Caucasian or Oriental populations studied. Among 10 patients with propionic acidemia, Desviat et al. The authors emphasized the different molecular effects of splicing ;ropionica and the possible phenotypic consequences.

Qcidemia complications of propionic acidemia in Saudia sic Arabia. Propionicacidemia in patients with ketotic hyperglycinemia. Pitfalls in acudemia prenatal diagnosis of propionic acidemia.

Idiopathic hyperglycinemia and hyperglycinuria: New splicing mutations in propionic acidemia. Disorders of propionate and methylmalonate metabolism. Localisation of enzymic defect in propionicacidaemia. Prenatal diagnosis and family studies in a case of propionicacidaemia. Biotin-responsive propionic acidemia presenting as the rumination syndrome. Propionicacidemia, a new inborn error of metabolism. Inherited propionyl-CoA carboxylase deficiency in ‘ketotic hyperglycinemia’.


Propionic acidemia – Wikipedia

Defective propionate carboxylation in ketotic hyperglycinaemia. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia. The concentrations of other amino-acids in the plasma and their modification by the administration propionnica leucine. Report of a second case. Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients. Genetic heterogeneity of propionic acidemia: Successful first trimester diagnosis in a pregnancy at risk for propionic acidemka.

High incidence of propionic acidemia in Greenland is due to a prevalent mutation, insCCC, in the gene for the beta-subunit propiobica propionyl CoA carboxylase. Hyperglycinemia with ketoacidosis and leukopenia.

The neuropathology of propionic acidemia. Inherited metabolic disorders and stroke part 2: Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. The biotin-dependent carboxylase deficiencies. Biotin responsiveness in propionicacidaemia.

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Asymptomatic propionyl CoA carboxylase deficiency in a year-old girl. Kinetic analysis genetic complementation in heterokaryons of propionyl CoA carboxylase-deficient human fibroblasts. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. Clinical Synopsis Toggle Dropdown. CC ]. Prenatal Diagnosis Buchanan et al. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

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