Author

Safa Khatrouch

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Open access Oct 2026

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case

ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomitin...

M. Zribi, Mariem Bhouri, Safa Khatrouch et al. · JIMD Reports · 0 citations

Case report Open access Sep 2026

Case Report: Primary bile acid synthesis defect: first cases series from Tunisia

Background Primary bile acid synthesis defects (BASD) are autosomal recessive disorders causing cholestatic liver disease and fat-soluble vitamin malabsorption. Despite being treatable with cholic acid (CA), BASD remain underdiagnosed, particularly in resource-limited settings. No data have been published from Tunisia....

M. Zribi, Safa Khatrouch, H. Boudabous et al. · Frontiers in Pediatrics · 0 citations

Open access Jul 2026

Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

The genetic spectrum of a Tunisian pediatric cohort with suspected mitochondrial diseases is described to describe the clinical and genetic spectrum of primary mitochondrial diseases in Tunisia, an underrepresented and admixed population.

Ismail Gouiza, A. Bouzidi, Meriem Hechmi et al. · Mitochondrion (Amsterdam. Pr... · 0 citations