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acidémia propiónová

Subject h.	acidémia propiónová
Subject h.	Propionic Acidemia
Entry terms	acidémia propionická glycinémia ketotická hyperglycinémia s ketoacidózou a leukopéniou hyperglycinémia ketotická deficit propionyl-CoA karboxylázy deficit PCC nedostatok PCC acidúria propionická propionacidémia propionacidúria deficiencia propionyl-CoA karboxylázy
English X references	Glycinemia, Ketotic Ketotic Glycinemia Ketotic Hyperglycinemia PCC Deficiency Propionicacidemia Propionyl-CoA Carboxylase Deficiency
Scope note in English	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.
See also reference (FX) in Slovak	metylmalonyl-CoA-dekarboxyláza
See also reference (FX) in English	Methylmalonyl-CoA Decarboxylase
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Number of the records: 1