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Case Reports in Obstetrics and Gynecology
Volume 2016, Article ID 6520148, 4 pages
http://dx.doi.org/10.1155/2016/6520148
Case Report

Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings

1Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of California Davis, Sacramento, CA 95817, USA
2Department of Pediatrics, Division of Genomic Medicine, University of California Davis, Sacramento, CA 95817, USA
3Department of Pediatrics, Division of Neonatology, University of California Davis, Sacramento, CA 95817, USA
4Department of Pathology and Laboratory Medicine, University of California Davis, Sacramento, CA 95817, USA
5Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA 90024, USA

Received 12 November 2015; Revised 30 March 2016; Accepted 17 April 2016

Academic Editor: Akihide Ohkuchi

Copyright © 2016 Véronique Taché et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

A term male neonate developed severe intractable lactic acidosis on day of life 1 and died the same day at our institution. The family previously lost another term, female newborn on day of life 1 from suspected sepsis at an outside hospital. After performing an autopsy on the neonate who died at our institution, extensive and lengthy neonatal and parental genetic testing, as well as biochemical analyses, and whole exome sequencing analysis identified compound heterozygous mutations in the lipoyltransferase 1 (LIPT1) gene responsible for the lipoylation of the 2-keto dehydrogenase complexes in the proband. These mutations were also identified in the deceased sibling. The clinical manifestations of these two siblings are consistent with those recently described in two unrelated families with lactic acidosis due to LIPT1 mutations, an underrecognized and underreported cause of neonatal death. Conclusions. Our observations contribute to the delineation of a new autosomal recessive metabolic disorder, leading to neonatal death. Our case report also highlights the importance of an interdisciplinary team in solving challenging cases.