Author

Johannes Häberle

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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

Open access Sep 2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT‐ATP6‐Related Mitochondrial ATP Synthase Defects

ATP synthase defects, including TMEM70 and MT‐ATP6 deficiencies, cause severe mitochondrial encephalo‐(cardio)‐myopathies complicated by acute metabolic decompensations (AMDs) often associated with hyperammonaemia. However, detailed biochemical characterisation of these events remains limited. The aim of the study was...

Barbara Siri, D. Martinelli, R. Carrozzo et al. · Journal of Inherited Metabol... · 0 citations