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Article

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.

Genes - 12 Aug 2020

Morán-Jiménez María-José, Borrero-Corte María-José, Jara-Rubio Fátima, García-Pastor Inmaculada, Díaz-Díaz Silvia, Castelbón-Fernandez Francisco-Javier, Enríquez-de-Salamanca Rafael, Méndez Manuel

Abstract excerpt

Acute intermittent porphyria (AIP) results from a decreased activity of hepatic hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. AIP is an autosomal dominant disorder with incomplete penetrance, characterized by acute neurovisceral attacks precipitated by several factors that induce the hepatic 5-aminolevulinic acid synthase, the first enzyme in the heme biosynthesis. Thus,...

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Identifiers

PMID: 32806544
DOI: 10.3390/genes11080924
PMCID: PMC7464722

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Source receipt: pubmed, retrieved 7 Sept 2026.

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