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Propionic acidemia |
hyperglycinemia with ketoacidosis and leukopenia; ketotic glycinemia; ketotic hyperglycinemia; PCC deficiency; propionyl-CoA carboxylase deficiency |
Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy. Death can occur at anytime due to secondary hyperammonemia, infection due to immune system suppression, cardiomyopathy, or basal ganglial stroke. Incidence Propionic acidemia is inherited in a autosomal recessive pattern and occurs in about 1 in 100,000 live births in the United States. The condition appears to be more comm ...
Wikipedia - [full article]
Propionic acidemia Clinical Trials
- Study of Oral Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis
ClinicalTrials.gov Identifier: NCT00007020 - Completed
Infantile Refsum's Disease; Zellweger Syndrome; Hyperpipecolic Acidemia; Adrenoleukodystrophy; Peroxisomal Disorders; Cholestasis; ...
- Clinical and Laboratory Study of Methylmalonic Acidemia
ClinicalTrials.gov Identifier: NCT00078078 - Recruiting
Amino Acid Metabolism; Inborn Errors
- Study of the Metabolism of Pyruvate and Related Problems in Patients with Lactic Acidemia
ClinicalTrials.gov Identifier: NCT00004353 - Recruiting
Mitochondrial Myopathy; MELAS Syndrome; Lactic Acidosis
- Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia
ClinicalTrials.gov Identifier: NCT00004493 - Recruiting
Lactic Acidosis
Resources
- Genetics Home Reference: Propionic acidemia (Genetics Home Reference)
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