McArdle's disease - A case report
TURKISH JOURNAL OF PEDIATRICS, cilt.38, sa.3, ss.355-359, 1996 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 38 Sayı: 3
- Basım Tarihi: 1996
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.355-359
- Anahtar Kelimeler: McArdle's disease, ischemic exercise test
- Dokuz Eylül Üniversitesi Adresli: Hayır
Özet
McArdle's disease is a hereditary, metabolic myopathy characterized by weakness and muscle cramps after exercise, appearing mostly in the second or third decade of life. Due to myophosphorylase deficiency in skeletal muscle, glycogen cannot he used and deposited in the sarcolemmal spaces, leading to lack of endurance to sustained work. The ischemic exercise test is a screening procedure for muscle energy disorders, and the diagnosis is confirmed by reduced enzyme activity in muscle biopsy.