Author

R. Carrozzo

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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

Open access Sep 2026

Lipid signature in X-ALD: a comparison between phenotypes

X-linked adrenoleukodystrophy (X-ALD) has highly variable phenotypes with no known genotype/phenotype correlation or method for predicting the course of the disease. Screening for X-ALD allows for early, potentially lifesaving treatment of adrenal insufficiency and cerebral demyelination, possibly useful to detect...

A. di Veroli, S. Petrillo, Caterina Torda et al. · Frontiers in Molecular Biosc... · 0 citations