McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case

Journal Title: Archives of Case Reports - Year 2018, Vol 2, Issue 1

Abstract

McArdle’s Disease, or Glycogen Storage Disease Type V, is the result of a deficiency in one of the enzymes responsible for the metabolism of glycogen in the body. Individuals with this disease, lack or produce very small concentrations of the myophosphorylase or glycogen phosphorylase enzyme.

Authors and Affiliations

T Calheiros-Cruz, MP Caamaño-Vara, B Villar-Fernández, J Ruibal-Azevedo, L Cameselle-Cortizo, M Cameselle-Arias, ME Charro Gamallo, F Turienzo-Pacho, A Yera Acosta

Keywords

Related Articles

Trauma to the neck: Manifestation of injuries outside the original zone of injury-A case report

A 53-year-old male presented to the Emergency Department (ED) with multisystem trauma and respiratory distress following a blunt-force injury to his anterior left neck. CT imaging showed extensive subcutaneous emphysema...

Brooke-Spiegler Syndrome: A rare cause of skin appendageal tumor

A 51-year-old women presented with asymptomatic multiple polypoidal nodules over scalp with simultaneous papularnodular skin eruptions involving nose, nasolabial folds and forehead for 40 years duration. Her daughter als...

A rare case: Congenital Megalourethra in prune belly syndrome

Introduction: Prune Belly syndrome is a disease characterized by abdominal muscle defect, bilateral cryptorchidsim and urinary system anomalies (reflux megaureter, hydronephrosis, etc.). Pulmonary, cardiac, and gastroint...

Giant Lipoma Anterior Neck: A case report

Lipoma is a benign mesenchymal tumor with a thirteen percent incidence in head and neck region. Posterior triangle is the most common location while anterior neck lipoma is a rare one. Giant lipomas >10cm have been repor...

Meige Trofoedema: A form of primary lymphedema

The lymphatic system consists of small non-contractile lymph vessels which collect fluid from the interstitial space and carry it to the major contractile lymphatic vessels with valves that maintain a unidirectional flow...

Download PDF file
  • EP ID EP554788
  • DOI 10.29328/journal.acr.1001010
  • Views 42
  • Downloads 0

How To Cite

T Calheiros-Cruz, MP Caamaño-Vara, B Villar-Fernández, J Ruibal-Azevedo, L Cameselle-Cortizo, M Cameselle-Arias, ME Charro Gamallo, F Turienzo-Pacho, A Yera Acosta (2018). McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case. Archives of Case Reports, 2(1), 19-23. https://europub.co.uk/articles/-A-554788