ArticleEuropean journal of human genetics : EJHG2025
Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers.
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4 citing papers in PubMed.
- Treating a patient with ADP porphyria through suppression of both hepatic and erythroid ALA production.Orphanet journal of rare diseases · 2026Article
- Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis.Molecular genetics and metabolism reports · 2026Article
- New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.Journal of internal medicine · 2026Article
- Genomic medicine in full bloom: a summer farewell issue.European journal of human genetics : EJHG · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors.
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Abstract
δ-Aminolevulinic acid (ALA) dehydratase (ALAD) deficient porphyria (ADP) is an extremely rare form of porphyria, with only eight documented cases. Herein, we report the second known case of ADP in the Western hemisphere and third case with infantile onset of symptoms. A male neonate presented on day three of life with profound hypotonia, pinpoint pupils, absent deep tendon reflexes, and anemia. Whole genome sequencing revealed two pathogenic missense ALAD variants, and subsequent biochemical testing confirmed a diagnosis of ADP. With supportive care and following erythrocyte transfusions for anemia, his hypotonia improved gradually. Neurological improvement following erythrocyte transfusion may have resulted from suppression of erythropoiesis and less overproduction of ALA and porphyrins by the marrow, which is an important consideration for long term management. This case highlights the importance of leveraging rapid whole genome sequencing for the diagnosis and minimization of devastating sequelae of exceptionally rare disorders, such as ADP.
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