Glycogen storage disease type V: delayed diagnosis of a cause of exercise intolerance in a patient with hereditary haemorrhagic telangiectasia.

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Tác giả: Ali Ataya, Urszula Krekora, Akash Mathavan, Akshay Mathavan

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : BMJ case reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 228527

Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder characterised by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. Iron deficiency due to chronic bleeding events is a common manifestation that produces a range of nonspecific symptoms. We report on a patient with HHT with longstanding fatigue and exercise intolerance, which was persistently attributed to iron deficiency, who was revealed to have glycogen storage disease type V, an autosomal recessive metabolic myopathy caused by deficiency of myophosphorylase due to
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