Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria

Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal pain and peripheral neuropathy. Hemin infusions...

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Autores principales:	Erica Graff, Karl E. Anderson, Cynthia Levy
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2022-08-01
Colección:	Frontiers in Genetics
Materias:	5-aminolevulinic acid dehydratase 5-aminolevulinic acid dehydratase deficiency porphyria 5-aminolevulinic acid synthase acute porphyria givosiran treatment
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fgene.2022.867856/full
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