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Neuropediatrics 2019; 50(04): 235-243
DOI: 10.1055/s-0039-1692207
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review

Rolla M. Shbarou
1   Division of Pediatric Neurology, Special Kids Clinic—Neurogenetics Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
,
Rose Mary Boustany
1   Division of Pediatric Neurology, Special Kids Clinic—Neurogenetics Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
,
Rose T. Daher
2   Clinical Chemistry, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon
,
Parisa Pakdel
3   Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
,
Abir Noureddine
4   Department of Nutrition, American University of Beirut Medical Center, Beirut, Lebanon
,
Pascale E. Karam
5   Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
› Author Affiliations
Further Information

Publication History

29 December 2018

12 April 2019

Publication Date:
06 June 2019 (online)

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Abstract

Nonketotic hyperglycinemia is a rare inborn error of glycine metabolism characterized by a severe metabolic encephalopathy with drug-resistant seizures. Here, we report the outcome of nonketotic hyperglycinemia in a cohort of patients diagnosed and followed-up at a tertiary care reference center in Lebanon, between 2000 and 2014.

Eight out of 12 patients with nonketotic hyperglycinemia were retrospectively reviewed. The remainders were excluded for incomplete data. The majority of cases presented with seizures and hypsarrhythmia or burst suppression patterns. Half of the patients died. Survival varied between 7 days and 18 years. Seizures remained unresponsive with poor outcome, despite standard supportive care and antiepileptic therapy; however, two patients were responsive to ketogenic diet and one of them became seizure-free.

Scarce data on the outcome of nonketotic hyperglycinemia patients from the Middle East and North Africa region are available. The ketogenic diet, in combination with standard therapies, appears to be effective in controlling the seizures in this devastating disorder. Larger multicenter studies are still needed to establish the role of the ketogenic diet in nonketotic hyperglycinemia.

Keywords

nonketotic hyperglycinemia - ketogenic diet - infantile spasms - hypsarrhythmia - burst suppression pattern - MENA region

Authors' Contribution

R.M.S. contributed to collection and interpretation of data and drafting of the paper. R.M.B. contributed to interpretation of data and reviewing the manuscript. R.T.D. performed the biochemical testing and reviewed the manuscript. P.P. contributed to data collection, A.N. contributed to drafting the dietary data. P.E.K. contributed to the design, analysis of data, drafting, and critical revision of the manuscript. All authors read and approved the final manuscript.


 

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