Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults

Autor: M. Brisset, A. Boutron, G. Nicolas, T. Maisonobe, Manuel Schiff, S. Souvannanorath, Yann Nadjar, Karine Viala, Pascal Laforêt, P. de Lonlay
Přispěvatelé: Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), AFSSET, CHU Necker - Enfants Malades [AP-HP], Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Paris (UP), AP-HP Hôpital universitaire Robert-Debré [Paris], Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Henri Mondor, Hôpital Raymond Poincaré [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Bicêtre, Groupe Hospitalier Universitaire Paris-Sud (GHUPS), CCSD, Accord Elsevier
Rok vydání: 2019
Předmět:
Adult
Male
medicine.medical_specialty
[SDV]Life Sciences [q-bio]
Exercise intolerance
Mitochondrial trifunctional protein deficiency
Disease
Gastroenterology
Lipid Metabolism
Inborn Errors
Rhabdomyolysis
Ganglionopathy
03 medical and health sciences
Young Adult
0302 clinical medicine
Sensory ataxia
MTP deficiency
Internal medicine
medicine
Humans
030212 general & internal medicine
Sensory neuronopathy
business.industry
Mitochondrial Trifunctional Protein
LCHAD deficiency
Age Factors
Mitochondrial Myopathies
Peripheral Nervous System Diseases
Middle Aged
medicine.disease
3. Good health
[SDV] Life Sciences [q-bio]
Peripheral neuropathy
Phenotype
Neurology
Etiology
Female
Neurology (clinical)
medicine.symptom
Nervous System Diseases
business
Cardiomyopathies
030217 neurology & neurosurgery
Retinopathy
Zdroj: Revue Neurologique
Revue Neurologique, Elsevier Masson, 2020, 176, pp.380-386. ⟨10.1016/j.neurol.2019.11.011⟩
Revue Neurologique, 2020, 176, pp.380-386. ⟨10.1016/j.neurol.2019.11.011⟩
ISSN: 0035-3787
DOI: 10.1016/j.neurol.2019.11.011⟩
Popis: Introduction Mitochondrial trifunctional protein deficiency (MTPD) is a long-chain fatty acid oxidation disorder characterized by co-existence of rhabdomyolysis episodes and peripheral neuropathy. Two phenotypes are described: generalized mitochondrial trifunctional protein deficiency (gMTPD) and isolated long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency (iLCHADD) that is always associated with the c.1528G>C mutation. Peripheral neuropathy of MTPD is commonly described in children as axonal, length-dependent and sensorimotor. Objectives To report clinical and electrophysiological features of four independent adult MTPD patients with peripheral neuropathy. Results Onset of the disease was characterized in all patients by rhabdomyolysis episodes occurring during childhood preceded by severe hypoglycemic episodes in three patients. Peripheral nerve involvement manifesting as sensory ataxia appeared later, during adolescence or adulthood. In all cases, electroneuromyogram showed no length-dependent sensory potentials decrease characteristic of sensory neuronopathy (“ganglionopathy”). All patients harbored at least one c.1528G>C mutation. Discussion We describe MTPD as a newly hereditary etiology of sensory neuronopathy in adults, specifically in patients with c.1528G>C mutation. MTPD should be screened for by performing plasma acylcarnitines in patients with chronic sensory neuronopathy and additional suggestive features such as exercise intolerance or retinopathy .
Databáze: OpenAIRE
Externí odkaz: