First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors. Biochemical analyses can determine the type of acute porphyria, and subsequent genetic analysis a...

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Bibliographic Details
Main Authors: Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Life
Subjects:
acute porphyrias
acute intermittent porphyria
de novo mutation
mosaic mutation
nanopore sequencing
Online Access:https://www.mdpi.com/2075-1729/13/9/1889

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