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; OMIM 231680, ETFB; OMIM 130410), or ETF-dehydrogenase (ETFDH; OMIM 231675). This case report illustrates that GAII may present in the teenage years and may not be associated with hypoglycaemia. It outlines some important diagnostic conundrums faced in diagnosing and managing juvenile onset myopathies. Mutational analysis from this patient revealed two mutations of the ETF-DH gene: EFTDH-334C>T/His122Tyr and EFTDH-1366C>A/Pro456Thr (OMIM 231675). An outline of this rare but important disease, its clinical characteristics and diagnostic methodology are given.
Beresford
Michael W
MW
Department of Rheumatology, Royal Liverpool Children's NHS Trust, Eaton Road, L12 2AP, Liverpool, UK. michael.beresford@ric.nhs.uk
Pourfarzam
Morteza
M
Turnbull
Doug M
DM
Davidson
Joyce E
JE
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D000293:Adolescent; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood; D004252:DNA Mutational Analysis; D044927:Electron-Transferring Flavoproteins / Q000235:genetics*; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D009135:Muscular Diseases / Q000097:blood / Q000209:etiology* / Q000235:genetics; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*
D044927:Electron-Transferring Flavoproteins; D005977:Glutarates; D007506:Iron-Sulfur Proteins; C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C035736:glutaric acid; D002331:Carnitine