McArdle hastalığı: Olgu sunumu ve literatürün gözden geçirilmesi

This case report underlines the importance of taking into account rare metabolic diseases such as muscle glycogenoses in the evaluation of patients with elevated liver enzymes.

📌 3 Key Takeaways

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Objective & Hypothesis:McArdle's disease, or myophosphorylase deficiency, is one of the most common muscle glyaogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in the exercising muscle.

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Key Findings & Data:We report the case of a 21-year-old male patient with liver enzyme elevation who had a history of weakness exercise intolerance, and muscle cramps since childhood.

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Conclusion & Impact:This case report underlines the importance of taking into account rare metabolic diseases such as muscle glycogenoses in the evaluation of patients with elevated liver enzymes.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Glikojen fosforilaz · kas formu · Glikojen depo hastalığı tip V

Abstract

McArdle's disease, or myophosphorylase deficiency, is one of the most common muscle glyaogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in the exercising muscle. We report the case of a 21-year-old male patient with liver enzyme elevation who had a history of weakness exercise intolerance, and muscle cramps since childhood. His sister (a three-year-old) suffered from similar symptoms. Laboratory results shouted that serum creatinine phosphokinase levels were elevated serum lactate did not rise on ischemic exercise testing, while muscle biopsy showed subsarcolemmal and intermyofibrillar periodic acid schiff-positive vacuoles filled with glycogen. This case report underlines the importance of taking into account rare metabolic diseases such as muscle glycogenoses in the evaluation of patients with elevated liver enzymes.

Özet

McArdle hastalığı veya myofosforilaz eksikliği en yaygın kas glikojenozlarından biridir ve tipik olarak çocukluk veya adolesan dönemde egzersiz intoleransı, myalji, myoglobinüri ve egzersiz yapılan kaslarda kramplar ile kendini gösterir. Bu makalede biz karaciğer enzim yüksekliği olan 21 yaşında erkek bir hasta tanımladık. Hastamızın çocukluğundan beri devam eden güçsüzlük, egzersiz intoleransı ve kas krampları mevcut idi. 3 yaşındaki kız kardeşinin de benzer yakınmaları mevcut idi. Laboratuvar testlerinde serum kreatinin fosfokinaz düzeyleri yüksek idi, iskemik egzersiz testinde serum laktatı yükselmedi ve kas biyopsisinde subsarkolemmal ve intermyofibriler glikojenle dolu periodic acid schiff-pozitif vakuoller saptandı. Sonuç olarak karaciğer enzim yüksekliği olan hastalarda kas glikojenozları gibi nadir metabolik hastalıklar da düşünülmelidir.

Keywords

Glikojen fosforilaz kas formu Glikojen depo hastalığı tip V Erişkin Erkek Tanı ayırıcı Eksiklik hastalıkları Glycogen Phosphorylase Muscle Form Glycogen Storage Disease Type V Adult Male Diagnosis Differential Deficiency Diseases

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Cite This Article

TÜZÜN, A., ERDİL, A., BAĞCI, S., BOLU, E., ÖNGÜRÜ, Ö., KURT, İ. (2002). McArdle hastalığı: Olgu sunumu ve literatürün gözden geçirilmesi. Turkish Journal of Gastroenterology, Cilt: 13 - Sayı: 1, 56–59. https://ajindex.com/articles/410445

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