Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis

δ-Aminolevulinate dehydratase deficiency porphyria (ADP) is an extremely rare autosomal recessive disorder, with only 12 previously reported cases. It is characterized by the accumulation of delta-aminolevulinic acid (ALA), which is associated with neurovisceral symptoms.We report the first case of...

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Autori principali:	Timofei Vizerov, Nina Demina, Rodion Ponomarev, Elena Lukina, Olesya Pshenichnikova, Daria Selivanova, Vyacheslav Tabakov, Oxana Ryzhkova
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2026-06-01
Serie:	Molecular Genetics and Metabolism Reports
Soggetti:	δ-Aminolevulinic acid dehydratase deficiency ALAD porphyria Acute hepatic porphyria Somatic mosaicism Whole-genome sequencing
Accesso online:	http://www.sciencedirect.com/science/article/pii/S2214426926000327
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