DSpace - Tor Vergata: Item 2108/1240

Please use this identifier to cite or link to this item: http://hdl.handle.net/2108/1240

Title:	Rapid and simple gas chromatography-mass spectrometry method for quantification of methylmalonic acid in plasma and urine: its application to the diagnosis of methylmalonic acidurias
Authors:	Federici, Giorgio Rammuthu, Dhanuka Indrajith
Keywords:	GC/MS gas chromatography mass spectrometry MMA methylmalonic acid
Issue Date:	29-Mar-2010
Abstract:	Methylmalonic aciduria is a group of organic aciduria associated with methylmalonyl-CoA mutase and cobalamin metabolic defects. Methylmalonic acidurias (MMAuria) are a heterogeneous group of inborn metabolic errors biochemically characterized by the accumulation of methylmalonate in urine and other body fluids. MMAuria exclusively affecting MCM activity (mut0,mut -,cblA and cblB) are termed isolated MMAuria. Some of these defects additionally affect the metabolism of methylcobalamin (MeCbl) resulting in combined MMA and homocysteinuria (cblC,cblD,cblF). Although the causes of Methylmalonic acidurias (MMAuria) are etiology, the clinical presentation of affected patients is similar. The majority of patients display early in life recurrent vomiting, dehydration, hepatomegaly, respiratory distress, muscular hypotonia and progressive alteration of consciousness, probably degenerating to overwhelming illness, deep coma and death. Severe combined keto-and lactic acidosis, hypo- or hyper-gly...
Description:	22. ciclo
URI:	http://hdl.handle.net/2108/1240
Appears in Collections:	Tesi di dottorato in medicina

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