ArticleMolecular genetics and metabolism reports2026
Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis.
Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.Orphanet journal of rare diseases · 2026Article
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8 authors.
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Abstract
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 ADP in Russia with late-onset symptoms and unique genetic findings. A 47-year-old Russian woman experienced recurrent abdominal pain, tachycardia, hypertension, and neuropathy onset at age 38. Biochemical tests revealed a marked and persistent elevation of urinary ALA, whereas PBG levels showed only moderate and episodic increases. Whole-exome sequencing (WES) revealed two variants in the
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