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Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with autosomal\u2010recessive <jats:styled-content style=\"fixed-case\">ECHS<\/jats:styled-content>1 deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using exome sequencing, we identified ten unrelated individuals carrying compound heterozygous or homozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">ECHS<\/jats:styled-content>1<\/jats:italic>. Functional investigations in patient\u2010derived fibroblast cell lines included immunoblotting, enzyme activity measurement, and a palmitate loading assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients showed a heterogeneous phenotype with disease onset in the first year of life and course ranging from neonatal death to survival into adulthood. The most prominent clinical features were encephalopathy (10\/10), deafness (9\/9), epilepsy (6\/9), optic atrophy (6\/10), and cardiomyopathy (4\/10). Serum lactate was elevated and brain magnetic resonance imaging showed white matter changes or a Leigh\u2010like pattern resembling disorders of mitochondrial energy metabolism. Analysis of patients\u2019 fibroblast cell lines (6\/10) provided further evidence for the pathogenicity of the respective mutations by showing reduced <jats:styled-content style=\"fixed-case\">ECHS<\/jats:styled-content>1 protein levels and reduced 2\u2010enoyl\u2010CoA hydratase activity. While serum acylcarnitine profiles were largely normal, in\u00a0vitro palmitate loading of patient fibroblasts revealed increased butyrylcarnitine, unmasking the functional defect in mitochondrial <jats:italic>\u03b2<\/jats:italic>\u2010oxidation of short\u2010chain fatty acids. Urinary excretion of 2\u2010methyl\u20102,3\u2010dihydroxybutyrate \u2013 a potential derivative of acryloyl\u2010CoA in the valine catabolic pathway \u2013 was significantly increased, indicating impaired valine oxidation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>In conclusion, we define the phenotypic spectrum of a new syndrome caused by <jats:styled-content style=\"fixed-case\">ECHS<\/jats:styled-content>1 deficiency. We speculate that both the <jats:italic>\u03b2<\/jats:italic>\u2010oxidation defect and the block in <jats:sc>l<\/jats:sc>\u2010valine metabolism, with accumulation of toxic methacrylyl\u2010CoA and acryloyl\u2010CoA, contribute to the disorder that may be amenable to metabolic treatment approaches.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.189","type":"journal-article","created":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T17:14:24Z","timestamp":1426266864000},"page":"492-509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":118,"title":["Deficiency of <scp>ECHS<\/scp>1 causes mitochondrial encephalopathy with cardiac involvement"],"prefix":"10.1002","volume":"2","author":[{"given":"Tobias B.","family":"Haack","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Technische Universit\u00e4t M\u00fcnchen 81675 Munich Germany"},{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen German 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