Lipid myopathies
RSS feedBiomarkers for assessing fatty acid oxidation deficiencies
French specialists in metabolic diseases have sought to gain a better understanding of the severity and course of patients suffering from fatty acid oxidation disorder (FAOD), some of whom have muscular manifestations: 27 patients aged over 6 years with different forms of FAOD were included in this retrospective study, 10 with LCHAD deficiency, 6 with … [Read more]
Sertaline intake may suggest metabolic myopathy
Canadian specialists have reported two cases of secondary mitochondrial disruption following the use of sertaline (Zoloft®), a widely used anti-depressant: the two patients were aged 22 and 61 respectively, and were suspected of having myopathy linked to multiple acyl-coA dehydrogenase (MADD) deficiency, This was due to chronic fatigue and metabolic abnormalities (carnitine deficiency and disturbed … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
An Iranian cohort of patients with muscular lipidosis
Iranian researchers report the clinical and biological data from a series of nine patients diagnosed with PNPLA2 gene-related muscle lipidosis: the nine patients came from seven different Iranian families, most of them consanguineous, the clinical picture consisted of an initially proximal muscle deficit in young adults, with associated cardiomyopathy in two of the nine cases, … [Read more]
Largest cohort of primary carnitine deficiency in the Faroe Islands treated with L-carnitine
A 10-year follow-up of the world’s largest cohort of 139 patients with primary carnitine deficiency, located in the Faroe Islands, where the incidence is particularly high, and treated with L-carnitine supplementation, revealed that : the vast majority of patients are alive and well (others died naturally, unrelated to the disease), a third continue to experience … [Read more]
Fatty acid beta-oxidation disorders: a French retrospective study is optimistic despite the lack of treatment
Analysis of retrospective data from 44 adults with fatty acid beta-oxidation deficiency followed up in six French centres of reference for rare neuromuscular or metabolic diseases showed that : fourteen had carnitine palmitoyl transferase 2 (CPT2) deficiency, nine had multiple acyl-CoA (MAD) deficiency, 13 had long-chain fatty acid dehydrogenase (VLCAD) deficiency, 3 had long-chain 3-hydoxyacyl-CoA … [Read more]
QT segment shortening induces fatal arrhythmias in primary carnitine deficiency
A French retrospective study of 19 patients with primary carnitine deficiency, aged between 4 months and 28.9 years (median 2.3 years) at diagnosis, found : ventricular rhythm disorders in 4 of them (two ventricular fibrillations, one ventricular tachycardia and one sudden death) and cardiomyopathy in 16 cases ; six of the 11 electrocardiograms available before … [Read more]
MADD deficiency is particularly common in China and responds to vitamin therapy
Multiple acyl-CoA dehydrogenase (MADD) deficiency is a rare inherited disease affecting fatty acid oxidation. It can result, in its late onset form, by a muscle deficit. This muscle lipidosis is particularly frequent in China where a mutation with a founder effect has been identified in the ETFDH gene. Researchers from the Chinese province of Shandong … [Read more]
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency
Very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an autosomal recessive disorder of fatty acid oxidation. Fatty acids are a major source of energy during catabolic stress, so the absence of VLCAD can result in a metabolic crises and respiratory insufficiency. The etiology of this respiratory insufficiency is unclear. Thus, the aims of the authors … [Read more]
