Publications by authors named "Marianne Jaroussie"
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Juliette Bouchereau Camille Wicker Karine Mention Clothilde Marbach Jeremy Do Cao Marianne Jaroussie
Mol Genet Metab
October 2024
Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.
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- - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
- - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
- - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.