So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager

Late-onset glutaric aciduria type II (GAII) is a rare but treatable cause of profound proximal myopathy. GAII is caused by defects in intra-mitochondrial acyl-CoA dehydrogenation due to deficiency in one of three molecules: the alpha or beta subunits of the electron transport flavoprotein (ETFA; OMI...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2006-04, Vol.16 (4), p.269-273
Hauptverfasser:	Beresford, Michael W., Pourfarzam, Morteza, Turnbull, Doug M., Davidson, Joyce E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyl-CoA Dehydrogenase - deficiency Adolescent Carnitine - analogs & derivatives Carnitine - blood DNA Mutational Analysis Electron-Transferring Flavoproteins - genetics Female Glutarates - urine Glutaric aciduria type II Humans Iron-Sulfur Proteins - genetics Late-onset Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - enzymology Metabolism, Inborn Errors - genetics Muscular Diseases - blood Muscular Diseases - etiology Muscular Diseases - genetics Myopathy Oxidoreductases Acting on CH-NH Group Donors - genetics
Online-Zugang:	Volltext
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