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• CLINICA NEUROL, 64: 8−16, 2024
• Vol.64 No.1 contents

Review

Acute hepatic porphyrias: pathophysiology and pathogenesis of acute attacks

Makiko Yasuda, M.D., Ph.D.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

Heme is an iron-containing molecule essential for virtually all living organisms. However, excessive heme is cytotoxic, necessitating tight regulation of intracellular heme concentration. The acute hepatic porphyrias (AHPs) are a group of rare inborn errors of heme biosynthesis that are characterized by episodic acute neurovisceral attacks that are precipitated by various factors. The AHPs are often misdiagnosed, as the acute attack symptom are non-specific and can be attributed to other more common causes. Understanding how heme biosynthesis is dysregulated in AHP patients and the mechanism by which acute attacks are precipitated will aid in accurate and rapid diagnoses, and subsequently, appropriate treatment of these disorders. Therefore, this review article will focus on the biochemical and molecular changes that occur during an acute attack and present what is currently known regarding the underlying pathogenesis of acute attacks.
Full Text of this Article in Japanese PDF (1632K)

(CLINICA NEUROL, 64: 8−16, 2024)
key words: acute hepatic porphyrias, heme biosynthesis, acute attack, ALAS1

(Received: 14-Mar-23)