Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Journal of Inherited Metabolic Disease
Laura Marti-SanchezBelén Pérez-Dueñas

Abstract

The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres. In total, we analysed the neurological features and mutation spectrum in 19 new SCEH/HIBCH patients. For natural history studies and phenotype to genotype associations we also included 70 previously reported patients. The 19 newly identified cases presented with Leigh syndrome (SCEH, n = 11; HIBCH, n = 6) and paroxysmal dystonia (SCEH, n = 2). Basal ganglia lesions (18 patients) were associated with small cysts in the putamen/pallidum in half of the cases, a characteristic hallmark for diagnosis. Eighteen pathogenic variants were identified, 11 were novel. Among all 89 cases, we observed a longer survival in HIBCH compared to SCEH patients, and in HIBCH patients carrying homozygous mutations on the protein surface compared to those with variants inside/near the catalytic region. The SCEH p.(Ala173Val) ...Continue Reading

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Citations

Feb 9, 2021·Radiology Case Reports·Kelsey R CasanoDivakar S Mithal
Mar 26, 2021·Journal of Inherited Metabolic Disease·Patrick F ChinneryShamima Rahman
Jun 19, 2021·Frontiers in Neurology·Federica Rachele DantiGiovanna Zorzi

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