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Devlynne S. Ondusko, Division of Neonatology, Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USAFollow
Lauren Culbertson, Division of Neonatology, Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA
Cary O. Harding, Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA
Cori Feist, Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA
Johan L.K. Van Hove, Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA; Department of Pathology and Laboratory Medicine, Children’s Hospital Colorado, Aurora, CO 80045, USA
Marisa W. Friederich, Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA; Department of Pathology and Laboratory Medicine, Children’s Hospital Colorado, Aurora, CO 80045, USA
Sacha Ferdinandusse, Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands
Roxanne A. Van Hove, Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Jonathan N. Pruneda, Department of Molecular Microbiology and Immunology, Oregon Health & Science University, Portland, Oregon, USA
Brian Scottoline, Division of Neonatology, Department of Pediatrics, Oregon Health & Science University, Portland, Oregon, USA
Kimberly A. Kripps, Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA

Abstract

Succinyl-CoA ligase deficiency is a rare autosomal recessive enzymatic deficiency that causes an energy-deficient state with mitochondrial depletion syndrome. It is often fatal. We present a case of novel variants in SUCLG1 leading to fatal infantile lactic acidosis. Two variants of uncertain significance in trans were identified in SUCLG1: c.901G>A p.(Gly301Arg) paternally inherited and c.532-6T>A maternally inherited. These variants resulted in severely reduced succinyl-CoA ligase activity. This patient exhibited the classical metabolic profile of succinyl-Co-A ligase deficiency and massive elevation of glutamine. Elevated glutamine, in the absence of hyperammonemia, should lead providers to consider succinyl-CoA ligase deficiency in infants with lactic acidosis. Synopsis: Elevated glutamine, in the absence of hyperammonemia, should lead providers to consider succinyl-CoA ligase deficiency in infants with lactic acidosis.Author contributions: D. Ondusko, L. Culbertson, B. Scottoline, and K. Kripps were involved in the conception and initial drafting of the article. JVH, MWF, and SF were involved in biochemical assessments. All authors were involved in subsequent drafts, interpretation of data, and revising the manuscript critically for important intellectual content. Corresponding author: Devlynne Sasha Ondusko, MDConflict of interest: The authors have nothing to declare. Marisa Friederich and Johan Van Hove are advisors for CureARS, a nonprofit organization. Funding: No funding was received for this manuscript. JVH and MWF were supported by funding from the Children’s Hospital Colorado Foundation, Riders for Samantha Fund. Ethics: Ethics approval was not required for this case report. The studies in the fibroblasts were done under a Colorado Multiple Institutional Review Board study protocol COMIRB# 18-1828. Consent: Consent was obtained by the patient's parents per Oregon Health & Science University guidelines.

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