Publication: 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
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Belosevic, A., Minder, A.-E., Gueuning, M., van Breemen, F., Thun, G. A., Mattle-Greminger, M. P., Meyer, S., Baumer Wolz, A., Minder, E. I., Schneider-Yin, X., & Barman-Aksözen, J. (2023). First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. Life, 13, 1889. https://doi.org/10.3390/life13091889
Abstract
Abstract
Abstract
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 allows for the identification of pathogenic variants in the specific gene, which provides information for family counselling. In 2017, a male Swiss patient was diagnosed with an acute porphyria while suffering from an acute attack. The patte
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Creators (Authors)
- Belosevic, Adrian
- Minder, Anna-Elisabeth
- Gueuning, Morgan
- van Breemen, Franziska
- Thun, Gian Andri
- Mattle-Greminger, Maja Patricia
- Meyer, Stefan
- Minder, Elisabeth I
- Schneider-Yin, Xiaoye
- Barman-Aksözen, Jasmin
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Citations
Belosevic, A., Minder, A.-E., Gueuning, M., van Breemen, F., Thun, G. A., Mattle-Greminger, M. P., Meyer, S., Baumer Wolz, A., Minder, E. I., Schneider-Yin, X., & Barman-Aksözen, J. (2023). First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria. Life, 13, 1889. https://doi.org/10.3390/life13091889
