Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Propionic Acidemia
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Propionic Acidemia
Description
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia. MeSH
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Phase 3 Indicated Drugs (1)
Phase 2 Indicated Drugs (1)
Phase 1 Indicated Drugs (4)
Other Experimental Indicated Drugs (3)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (13)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (1)
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