Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency

✍ Scribed by C. Zimmer; H. Altenkirch; S. Dorfmüller-Küchlin; D. Pongratz; I. Paetzke; G. Gosztonyi

• Book ID: 104720622
• Publisher: Springer
• Year: 1991
• Tongue: English
• Weight: 614 KB
• Volume: 238
• Category: Article
• ISSN: 0340-5354
• DOI: 10.1007/bf00319707

✦ Synopsis

A 31-year-old woman developed an acute, potentially fatal rhabdomyolysis of undetermined origin. Muscle biopsy revealed selective lysis involving exclusively type 2a fibers. Myoadenylate-deaminase (MAD) deficiency was proven by a negative histochemical reaction as well as by an enzymatic biochemical determination. The significantly greater energetic dependence of type 2a fibres on MAD explains their selective damage. The patient's mother also suffers from a similar muscle disease of still unclarified origin.