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Article

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Molecular genetics and metabolism - 1 Nov 2013

Tondo Mireia, Calpena Eduardo, Arriola Gema, Sanz Paloma, Martorell Loreto, Ormazabal Aida, Castejon Esperanza, Palacin Manuel, Ugarte Magdalena, Espinos Carmen, Perez Belen, Perez-Dueñas Belen, Pérez-Cerda Celia, Artuch Rafael

Abstract excerpt

Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children presented with febrile seizures followed by developmental delay, clumsiness and epilepsy. At age 2 and 8 years a biochemical and genetic diagnosis of hyperlysinemia type I was confirmed and lysine-restricted diet was started in...

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PMID: 23890588
DOI: 10.1016/j.ymgme.2013.06.021

Genes

AASS

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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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