2020
DOI: 10.1016/j.ejpn.2020.07.007
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Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency

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Cited by 24 publications
(28 citation statements)
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“…We did not find another reported case with similarly combined alleles as our case. All cases are described in Table 3 [ 4 , 27 , 28 , 29 , 30 , 31 , 32 ].…”
Section: Discussionmentioning
confidence: 99%
“…We did not find another reported case with similarly combined alleles as our case. All cases are described in Table 3 [ 4 , 27 , 28 , 29 , 30 , 31 , 32 ].…”
Section: Discussionmentioning
confidence: 99%
“…5 Masnada et al distinguished four phenotypes of ECHS1 deficiency: (1) a severe neonatal form with fatal course, (2) a severe infantile form with slower neurological deterioration, (3) a slowly progressive infantile form, and (4) a form with paroxysmal exercise-induced dystonic attacks. 4,5 We classified a severe infantile case with slower neurological deterioration with typical symptoms.…”
Section: Discussionmentioning
confidence: 99%
“…If ECHS1 loses its function, the highly reactive intermediates accumulate and cause an impairment of adenosine triphosphate (ATP) production, metabolic acidosis, and subsequently a brain damage. [4][5][6] Here, we report data gathered on a patient presenting with the homozygous mutation c.476A > G in ECHS1 gene with severe encephalopathy and developmental delay.…”
Section: Introductionmentioning
confidence: 99%
“…1 ) [1] , [2] , [3] , [4] . ECHS1 deficiency (OMIM 602292 ) causes Leigh syndrome and/or exercise-induced dystonia in milder forms and more than 60 cases have been reported [5] , [6] , [7] . Patients with ECHS1 deficiency typically present with developmental delay and neurological deterioration from the neonatal or early infantile period, presenting features of Leigh syndrome with basal ganglia lesions and lactic acidemia [8 , 9 , 10 , 11] .…”
Section: Introductionmentioning
confidence: 99%