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Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis


ECHS1 is a mitochondrial matrix enzyme that catalyzes an important step in the β-oxidation spiral of fatty acid catabolism, and individuals with mutations in the ECHS1 gene suffer from an autosomal recessive condition typified by delayed psychomotor development, mitochondrial encephalopathy, hypotonia, and cardiomyopathy. Here we report the first Arab case of ECHS1 Deficiency. The patient was born to consanguineous parents with all growth parameters being low for gestational age, and was persistently desaturated. Cord blood gas and later blood analysis showed severe metabolic acidosis. Tandem MS revealed increased levels of valine, and Leucine/Isoleucine and decreased level of Glutamine. There was also a large patent ductus arteriosus with right to left shunt and a possible small muscular ventricular septal defect. Whole Exome Sequencing revealed a novel homozygous missense mutation in the ECHS1 gene; c.842 A > G (p.Glu281Gly). In-silico analysis suggests that the residue affected by this mutation may be involved in an important functional or structural role.

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Authors would like to thank the patient’s family for full cooperation. Thanks also go to Dubai Health Authority and Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences for continuous and comprehensive support.

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Correspondence to Pratibha Nair.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Nair, P., Hamzeh, A.R., Mohamed, M. et al. Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. Metab Brain Dis 31, 1189–1192 (2016).

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  • Short-chain enoyl-CoA hydratase
  • SCEH
  • Mitochondrial encephalopathy
  • Arab