Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings
Joint Authors
Gregg, Jeffrey P.
Taché, Véronique
Bivina, Liga
White, Sophie
Deignan, Joshua
Boyadjievd, Simeon A.
Poulain, Francis R.
Source
Case Reports in Obstetrics and Gynecology
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-05-10
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Taché, Véronique& Bivina, Liga& White, Sophie& Gregg, Jeffrey P.& Deignan, Joshua& Boyadjievd, Simeon A.…[et al.]. 2016. Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. Case Reports in Obstetrics and Gynecology،Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1101559
Modern Language Association (MLA)
Taché, Véronique…[et al.]. Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. Case Reports in Obstetrics and Gynecology No. 2016 (2016), pp.1-4.
https://search.emarefa.net/detail/BIM-1101559
American Medical Association (AMA)
Taché, Véronique& Bivina, Liga& White, Sophie& Gregg, Jeffrey P.& Deignan, Joshua& Boyadjievd, Simeon A.…[et al.]. Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings. Case Reports in Obstetrics and Gynecology. 2016. Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1101559
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1101559