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

Rolla M. Shbarou; Rose Mary Boustany; Rose T. Daher; Parisa Pakdel; Abir Noureddine; Pascale E. Karam

doi:10.1055/s-0039-1692207

Neuropediatrics, Inhaltsverzeichnis

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

¹Division 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

¹Division 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

²Clinical Chemistry, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon

,

Parisa Pakdel

³Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon

,

Abir Noureddine

⁴Department of Nutrition, American University of Beirut Medical Center, Beirut, Lebanon

,

Pascale E. Karam

⁵Inherited Metabolic Diseases Program, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon

› Institutsangaben

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

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Referenzen

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