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