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In addition to Glycogen Storage Diseases type V & VII, it would be appropriate to rule out a fatty acid oxidation defect (CPT II deficiency most likely). > Date: Mon, 28 Jan 2002 15:10:13 -0000 > Reply-to: "Grimes, Helen, UCHG" <[log in to unmask]> > From: "Grimes, Helen, UCHG" <[log in to unmask]> > Subject: Raised CPK - what next? > To: [log in to unmask] > 16 year old boy presented to GP approx 1 year ago with some shortness of > breath, muscle pains. He has been seen in various specialities, no > abnormality being found, and the GP was told the muscle biopsy was "normal". > The GP outrules drug abuse and muscle building regimes. He is euthyroid and > on no medication. He has had 3 transient rises in AST (highest 112 U/L) over > 7 months, mirrored to a lesser extent by ALT (highest 90 U/L). Alk Phos is > constantly elevated at 300 - 400 U/L, but he would be still growing. GGT has > remained normal". 24 hours post excercise his CPK was 4451 U/L, AST 112, ALT > 64 U/L. His CPK during the first 7 month period was 899 in May, 1092 in > July, 1873 in August, 636 on 3/9/01, and 1579 on 20/9/01, then 4451 in > December post excercise, and recently while in hospital was 309 U/l, by > which time AST and ALT were also normal. > Any comments or suggestions? > > Dr Helen Grimes > Department of Clinical Biochemistry > University College Hospital > Galway > Ireland > > -------------------------------------------------------------------- Dr M Pourfarzam James Spence Institute of Child Health University of Newcastle upon Tyne Royal Victoria Infirmary Newcastle upon Tyne, NE1 4LP England Tel: ++44 191 2023042 Fax: ++44 191 2023022