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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:
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.
Last Updated: Jun 23, 2020

Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated ...

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 ...

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3 Free Review Articles 14 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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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 58 free, full-text research articles. First few results:
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
Last Updated: May 05, 2020

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA or PCCB. The present study aimed to identify the genetic ...

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.
Last Updated: May 13, 2020

Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities-such as hyperammonemia, metabolic acidosis, and ketosis-associated with ...

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58 Free Research Articles 215 Research Articles