Clinical, Laboratory, and Short-Term Outcomes in Neonatal Nonketotic Hyperglycinemia
Open Access
- 30 September 2021
- journal article
- research article
- Published by Briefland in Iranian Journal of Pediatrics
- Vol. 31 (5)
- https://doi.org/10.5812/ijp.116777
Abstract
Background: Nonketotic hyperglycinemia (NKH) is a rare metabolism disorder with autosomal recessive transmission. Newborn infants characteristically present with hypotonia, lethargy, convulsions, and apnea and are generally lost within the first year of life. Objectives: The aim of this study was to evaluate the clinical characteristics, laboratory findings, and short-term results of infants diagnosed with NKH. Methods: The retrospective study included 10 infants diagnosed with NKH between August 2013 and July 2020. The clinical characteristics, laboratory findings, treatment methods, and short-term outcomes of the patients were evaluated. Results: The age range of patients (50% males vs. 50% females) was 2 - 8 days on presentation. The complaints on presentation were decreased breastfeeding, lethargy, convulsions, hiccups, apnea, and respiratory problems. In the physical examination, significant hypotonia and reduced or absence of newborn reflexes were predominant. Mechanical ventilation (MV) was required for nine patients. The cerebral spinal fluid/serum glycine ratio was > 0.08 in all patients, with median value of 0.19 (range: 0.12 - 0.30). The presence of a burst suppression pattern on electroencephalography and an increase in the glycine peak in magnetic resonance spectroscopy were the supportive diagnostic findings. Mutation analysis was performed on one patient. Seizures resistant to treatment were controlled with levetiracetam in three patients and dextromethorphan in one patient. Conclusions: According to the results, the most common clinical findings in NKH were severe hypotonia, seizure, and encephalopathy. In some cases, with resistant seizures, levetiracetam was found to be effective. Keywords Newborn Levetiracetam Hypotonia Nonketotic HyperglycinemiaKeywords
This publication has 23 references indexed in Scilit:
- Nonketotic HyperglycinemiaJournal of Child Neurology, 2012
- Magnetic Resonance Findings in a Neonate With Nonketotic HyperglycinemiaJournal of Computer Assisted Tomography, 2010
- Population pharmacokinetics of levetiracetam and dosing recommendation in children with epilepsyEpilepsia, 2009
- Neonatal non‐ketotic hyperglycinemia: Report of five casesPediatrics International, 2008
- Sulthiame but not levetiracetam exerts neurotoxic effect in the developing rat brainExperimental Neurology, 2005
- Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory DiagnosisMolecular Genetics and Metabolism, 2001
- Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996PEDIATRICS, 2000
- Neonatal type of nonketotic hyperglycinemiaPediatric Neurology, 1999
- Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestationsThe Journal of Pediatrics, 1996
- Use of placental enzyme analysis in assessment of the newborn at risk for nonketotic hyperglycinaemia (NKH)Journal of Inherited Metabolic Disease, 1989