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ADULT-ONSET ACID MALTASE DEFICIENCY MYOPATHY - EFFECTS OF A HIGH-PROTEIN DIET
被引：6
作者：
FERRER, X
COQUET, M
SAINTARAILLES, J
ELLIE, E
DELEPLANQUE, B
DESNUELLE, C
LEVADE, T
LAGUENY, A
JULIEN, J
机构：
来源：
REVUE DE MEDECINE INTERNE
|
1992年
/
13卷
/
02期
关键词：
MYOPATHY;
ACUTE RESPIRATORY FAILURE;
ACID MALTASE ACTIVITY;
TREATMENT;
HIGH-PROTEIN DIET;
D O I：
10.1016/S0248-8663(05)82200-3
中图分类号：
R5 [内科学];
学科分类号：
1002 ;
100201 ;
摘要：
A 21 -year old women with rhizomelic muscular deficit and signs of hypercapnia developed acute respiratory failure. Laboratory tests revealed high creatine kinase activity, and electromyograms showed myogenic patterns with a few myotonic discharges. Biopsy of the quadriceps muscle elicited major vacuolar myopathy with glycogen overload. Acid maltase activity was undetectable in muscular tissue. After 7 months on high-protein diet (1540 calories, 37 % proteins) there was no clinical or biochemical improvement. The other published cases of acid maltase deficiency treated with high-protein diet are discussed.
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页码：149 / 152
页数：4
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