In a personal series of 107 patients, we describe clinical presentations, methods of recognition
and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, …

Organic acidurias comprise many various disorders. Methylmalonic aciduria (MMA) and
propionic aciduria (PA) are the most frequent diseases and the two organic acidurias for which …

This paper reviews the clinical presentation of 217 patients with urea cycle defects,
including 121 patients with neonatal-onset forms and 96 patients with late-onset forms. Long-term …

Background—The clinical manifestations of inherited disorders of fatty acid oxidation vary
according to the enzymatic defect. They may present as isolated cardiomyopathy, sudden …

Huntington disease (HD) is a fatal neurodegenerative disorder, with no effective treatment.
The pathogenic mechanisms underlying HD have not been elucidated, but weight loss, …

… En plus d'une activité caséinolytique, quatre activités … Son activité est maximum à pH 7,50 et
à 50C; l'énergie apparente d'… spécificité d'action envers les dipeptides possédant un résidu d'…

We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings
born to first cousin parents. They presented with progressive encephalopathy, dystonia, …

Mitochondrial disorders have long been regarded as neuromuscular diseases only. In fact,
owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical …

OBJECTIVE: The goal of this study was to describe the spectrum of clinical signs of mevalonate
kinase deficiency (MKD). METHODS: This was a retrospective French and Belgian study …

The genes encoding succinate dehydrogenase (SDH) subunits B, C and D, act as tumour
suppressors in neuro-endocrine tissues. Tumour formation has been associated with …