Caracterización clínica, bioquímica e imagenológica en una cohorte de pacientes diagnosticados con hiperglicinemia no cetósica clásica: estudio ambispectivo 2000-2014, Medellín, Colombia

Introduction: Nonketotic Hyperglycinemia is an inborn error of metabolism in a group of aminoacidopathies, autosomal recessive, caused by a defect in the system of the glycine cleavage. It is rare, and the incidence is unknown in Colombia. Objective:To describe clinical, biochemical and imaging characteristics in a cohort of patients diagnosed with classical nonketotic hyperglycinemia. Materials and methods: This is a descriptive-ambispective study during the period January 2000 - 2014 in some centers of Medellin. Results: There were 35 patients who met the search criteria and finally 20 patients who met inclusion criteria. We found in this cohort more girls than boys, and most of them with a good APGAR. The average onset of symptoms was 2.6 days, with drowsiness, hypoactivity, apnea, seizures and singultus the main symptoms. The focal seizures were the most frequent type. The average value of CSF glycine to plasma glycine ratio was 0.42. The burst suppression pattern in the EEG and the absence or delayed myelination in the supratentorial white matter on MRI were common findings. All patients received dextromethorphan as part of their treatment and the vast majority of sodium benzoate. Conclusion: HGNC is common in our environment. It´s necessary to have available biochemical and molecular evidence for timely diagnosis, comprehensive management and genetic counseling.