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Article

Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.

European journal of medical genetics - 1 Sept 2022

Lugli Licia, Cavalleri Francesca, Bertucci Emma, Fischer-Zirnsak Björn, Cinelli Giulia, Trevisani Viola, Rossi Cecilia, Riva Marika, Iughetti Lorenzo, Berardi Alberto

Abstract excerpt

Autosomal recessive cutis laxa type IIIA is a very rare genetic condition, caused by pathogenic variants in ALDH18A1, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS). This enzyme catalyzes the reduction of glutamic acid to delta1-pyrroline-5-carboxylate, playing a key role in the de novo biosynthesis of proline, ornithine, and arginine. Autosomal recessive cutis laxa type IIIA is characterized by...

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PMID: 35842092
DOI: 10.1016/j.ejmg.2022.104568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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