Le déficit en short-chain acyl-coA deshydrogenase (SCAD) révélé par une absence de cétose au décours d’une épreuve de jeûne

Desdoits, F.; Douillard, C.; Vaidie, A.; Desailloud, Rachel

doi:10.1016/j.ando.2016.07.892

Cited by 1 publication

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“…The deficiency in SCAD is a poorly defined entity. Clinic expression is polymorph and nonspecific: the most frequent symptoms are chronic and episodic neuromuscular disabilities, hypotonia, and seizures [29,30]. The reported mutations are multiple and its physiopathology is still insufficiently understood [31].…”

Section: Discussionmentioning

confidence: 99%

Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

Braïlova

Clerfond

Trésorier

et al. 2020

JCM

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Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010-2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6-11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich's ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1-8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.

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Section: Discussionmentioning

confidence: 99%