Non-invasive 31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child.

Details

Serval ID
serval:BIB_F1983FFEF360
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Non-invasive 31P magnetic resonance spectroscopy revealed McArdle disease in an asymptomatic child.
Journal
European Journal of Pediatrics
Author(s)
Gruetter R., Kaelin P., Boesch C., Martin E., Werner B.
ISSN
0340-6199 (Print)
ISSN-L
0340-6199
Publication state
Published
Issued date
04/1990
Volume
149
Number
7
Pages
483-486
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
A Turkish couple suffering from McArdle disease (myophosphorylase deficiency) and their two sons aged 5 and 9 years, respectively, were studied using 31phosphorus magnetic resonance spectroscopy (31P MRS). During exercise both sons showed the same pathological pattern as their parents. In contrast to healthy volunteers, intracellular pH (pHi) as measured by 31P MRS every 10 s during exercise, never fell below the lower 95% confidence limit (6.94) of pHi at rest (7.06), but tended to be raised. It is of special interest that the 5-year-old boy was completely asymptomatic, although the enzyme defect seems to be fully expressed at the cellular level.
Keywords
Adult, Child, Child, Preschool, Exercise Test, Glycogen Storage Disease Type V/diagnosis, Humans, Magnetic Resonance Spectroscopy, Male, Phosphorus/diagnostic use, Physical Exertion
Pubmed
Create date
04/08/2010 15:28
Last modification date
20/08/2019 16:19
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