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Propionic acidemia

Ketotic glycinemiaPCC deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Propionic acidemia" returned 3 free, full-text review articles. First few results:
Optic neuropathy in methylmalonic acidemia and propionic acidemia.
Last Updated: Dec 22, 2015

Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both ...

Propionic acidemia in the Arab World.
Last Updated: Apr 27, 2015

The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in either PCCA or PCCB genes, which encode the alpha and beta subunits ...

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3 Free Review Articles 13 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Propionic acidemia" returned 0 free, full-text editorial articles. First 0 results:
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0 Free Editorials 1 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Propionic acidemia" returned 49 free, full-text research articles. First few results:
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
Last Updated: Oct 07, 2019

Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place ...

Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.
Last Updated: Apr 19, 2019

Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC The primary objective of this study was to conduct a systematic literature ...

Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia.
Last Updated: Apr 22, 2019

Elevated levels of metabolites such as ammonia and propionylcarnitine in propionic acidemia (PA) lead to an increased reactive oxygen species (ROS) production which could activate and stabilize the epigenetic regulated hypoxia-inducible factor-1α (HIF-1α). In order to evaluate the ...

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49 Free Research Articles 206 Research Articles