Abstract
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.
References
BERMÚDEZ M, ARTEAGA C, CIFUENTES Y. Hiperglicinemia no cetósica (HGNC). Forma típica y atípica. Presentación de casos diagnosticados en Colombia. Rev. Fac. Med. 2007;55(2):126-34.
CIFUENTES Y, BERMÚDEZ M, ARTEAGA C. Encefalopatía neonatal. Algo más que asfixia al nacer. Presentación de casos. Rev. Fac. Med. 2007;55(2):126-34.
BERRY GT. Inborn errors of carbohydrate, ammonia, amino acid, and organic acid metabolism. In: Teaeusch, Ballard, Gleason, eds. Avery's diseases of the newborn. Elsevier; 2005. p. 227-57.
BHAMKAR RP, COLACO P. Neonatal nonketotic hyperglycinemia. Indian journal of pediatrics 2007 Dec;74(12):1124-6.
VON WENDT L, HIRVASNIEMI A, SIMILÄ S. Nonketotic hyperglycinemia. A genetic study of 13 Finnish families. Clinical genetics 1979 May;15(5):411-7.
PERNA JA, GUTIÉRREZ C. PDH. Hiperglicinemia no cetósica. Repertorio de Medicina y Cirugía 2001;10(3):42-6.
BERMÚDEZ M, ARTEAGA C, CIFUENTES Y, ESPINOSA E, URIBE A, BARRERA L, ET AL. Hiperglicinemia no cetósica (HGNC). Forma típica y atípica: casos clínicos diagnosticados en Colombia. Pediatría 2001;36(2):123-9.
URIBE A, ESPAÑA M, MURILLO P. Doce años de investigación (1996-2008): tamizaje de alto riesgo de errores innatos del metabolismo de aparición temprana. Memorias - I Congreso Latinoamericano de Genética Humana / IX Congreso Colombiano de Genética; 2008. p. M6.
VAN HOVE J, COUGHLIN C, MBE AND GS. Glycine Encephalopathy. GeneReviews®. 2013. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1357/
HAMOSH A, SCHARER G, VAN HOVE J. Glycine Encephalopathy. GeneReviews. 2009 Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1116/ (Último acceso: marzo 5 de 2012).
APPLEGARTH DA, TOONE JR. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Molecular genetics and metabolism 2001;74(1-2):139-46.
TOONE JR, APPLEGARTH DA, COULTER-MACKIE MB, JAMES ER. Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Molecular genetics and metabolism 2001 Apr;72(4):322-5.
TOONE JR, APPLEGARTH DA, COULTER-MACKIE MB, JAMES ER. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Molecular genetics and metabolism 2000 Jun;70(2):116-21.
HOOVER-FONG JE, SHAH S, VAN HOVE JLK, APPLEGARTH D, TOONE J, HAMOSH A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 2004 Nov 23;63(10):1847-53.
HAMOSH A, JOHNSTON MV. Part 8: Amino acids Chapter 90. Nonketotic Hyperglycinemia In: Hamosh A, Johnston MV. Prenatal Diagnosis. p. 1-30.
HAYASAKA K, TADA K, FUEKI N, NAKAMURA Y, NYHAN WL, SCHMIDT K, ET AL. Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. The Journal of pediatrics 1987 Jun;110(6):873-7.
BEDOYA G, GARCÍA J, MONTOYA P, ROJAS W, EUGENIA M, SOTO I, ET AL. Análisis de isonimia entre poblaciones del noroeste de Colombia. Biomédica 2006;26:538-45.
CARSON NAJ for NW. 17th Symposium of SSIEM. Non-ketotic Hyperglycinaemia - A Review of 70 Patients. J. Inher. Metab. Dis. 1982;2:126-8.
HENNERMANN JB. Clinical variability in glycine encephalopathy. Future Neurol. 2006;1:621-30.
SUZUKI Y, KURE S, OOTA M, HINO H, FUKUDA M. Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. Pediatric neurology 2010 Sep;43(3):221-4.
HAMOSH A, MAHER JF, BELLUS G A, RASMUSSEN S A, JOHNSTON MV. Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. The Journal of pediatrics 1998 Apr;132(4):709-13.
VAN HOVE JLK, VANDE KERCKHOVE K HJ, MAHIEU V, DECLERCQ P, MERTENS S. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis. 2005;28(5):651-63.
LU FL, WANG PJ, HWU WL, TSOU YAU KI, WANG TR. Neonatal type of nonketotic hyperglycinemia. Pediatric neurology 1999 Apr;20(4):295-300.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.