J Pediatr Genet 2016; 05(03): 174-180
DOI: 10.1055/s-0036-1584358
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia

Sarah L. Nickerson
1  Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
,
Shanti Balasubramaniam
2  Metabolic Unit, Department of Rheumatology/Metabolic Medicine, Princess Margaret Hospital, Perth, WA, Australia
3  School of Paediatrics and Child Health, University of Western Australia, WA, Australia
,
Philippa A. Dryland
1  Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
,
Jennifer M. Love
1  Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
,
Maina P. Kava
3  School of Paediatrics and Child Health, University of Western Australia, WA, Australia
4  Department of Paediatric Neurology, Princess Margaret Hospital for Children, Perth, WA, Australia
,
Donald R. Love
1  Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
,
Debra O. Prosser
1  Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
› Author Affiliations
Further Information

Publication History

20 May 2015

09 September 2015

Publication Date:
15 June 2016 (online)

Abstract

Nonketotic hyperglycinemia, also known as glycine encephalopathy (OMIM #605899), is an autosomal recessive disorder of glycine metabolism resulting from a defect in the glycine cleavage system. We report two novel mutations of the glycine decarboxylase (GLDC) gene observed in a compound heterozygous state in a neonate of mixed Maori and Caucasian parentage: c.395C>T p.(Ser132Leu) in exon 3, and c.256-?_334+?del p.(Ser86Valfs*119), resulting in an out-of-frame deletion of exon 2. Additionally, we describe our experience of implementing the ketogenic diet, alongside standard pharmacological therapy, and highlight its potential therapeutic benefit in severe nonketotic hyperglycinemia, particularly in seizure management.