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

• Main Authors: Véronique Taché (Author), Liga Bivina (Author), Sophie White (Author), Jeffrey Gregg (Author), Joshua Deignan (Author), Simeon A. Boyadjievd (Author), Francis R. Poulain (Author)
• Format: Book
• Published: Hindawi Limited, 2016-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 ou...