MYOPHOSPHORYLASE DEFICIENCY - AN UNUSUALLY SEVERE FORM WITH MYOGLOBINURIA

Authors
KRISTJANSSON K TSUJINO S DIMAURO S
Citation
K. Kristjansson et al., MYOPHOSPHORYLASE DEFICIENCY - AN UNUSUALLY SEVERE FORM WITH MYOGLOBINURIA, The Journal of pediatrics, 125(3), 1994, pp. 409-410
Citations number
12
Categorie Soggetti
Pediatrics
Journal title
The Journal of pediatrics → ACNP
ISSN journal
00223476
Volume
125
Issue
3
Year of publication
1994
Pages
409 - 410
Database
ISI
SICI code
0022-3476(1994)125:3<409:MD-AUS>2.0.ZU;2-3
Abstract
Myophosphorylase deficiency (McArdle disease) is characterized by exer cise intolerance that usually starts in childhood. Severe cramps and m yoglobinuria are rarely problems in children. We describe an 8-year-ol d boy with exercise-induced myoglobinuria; he was homozygous for the m utation most commonly encountered in patients with typical McArdle dis ease.