title: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
abstract: 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.
authors.affiliation: Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, UAE. pratibha.nair@gmail.com.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nair
authors.affiliation: Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, UAE.
authors.forename: Abdul Rezzak
authors.initials: AR
authors.lastname: Hamzeh
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Madiha
authors.initials: M
authors.lastname: Mohamed
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Ethar Mustafa
authors.initials: EM
authors.lastname: Malik
authors.affiliation: Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, UAE.
authors.forename: Mahmoud Taleb
authors.initials: MT
authors.lastname: Al-Ali
authors.affiliation: Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, UAE.
authors.forename: Fatma
authors.initials: F
authors.lastname: Bastaki
mesh_terms: D000138:Acidosis / Q000175:diagnosis* / Q000235:genetics*; D000595:Amino Acid Sequence; D004746:Enoyl-CoA Hydratase / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D012720:Severity of Illness Index; D014479:United Arab Emirates
chemical_list: C000600529:ECHS1 protein, human; D004746:Enoyl-CoA Hydratase
keywords: Arab; Mitochondrial encephalopathy; SCEH; Short-chain enoyl-CoA hydratase