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Updated: Jan 7, 2026

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Published on: December 23, 2014

X連鎖性リンパ増殖症候群（XLP）のグリコーゲン貯蔵病様プレゼンテーション

Ajay Elangovan¹, Archa Bali², Balachandar Vellingiri¹

¹Central University of Punjab, Bathinda, PB, India.

BMJ case reports

|December 31, 2025

Abstract:

This case presents an infant male child who initially presented with clinical features resembling glycogen storage disease type I (GSD I), including hepatomegaly, a doll-like face and metabolic abnormalities. However, further investigations and genetic testing revealed a pathogenic mutation associated with X-linked lymphoproliferative syndrome, leading to a diagnosis of haemophagocytic lymphohistiocytosis. The patient was treated with immunosuppression and is now under consideration for stem cell transplantation.

キーワード:

遺伝子スクリーニング/カウンセリング小児科（薬と医療）

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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Biochemical Titration of Glycogen In vitro

Biochemical Titration of Glycogen In vitro

Published on: November 24, 2013

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