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Two Cases of Glycine Encephalopathy Accompanied by Pes Equinovarus egul Zenciro lu, MDDepartment of Neonatology Sami Ulus Children's Hospital Ankara, Turkey, aysegulz{at}med.unc.edu
Department of Neonatology Sami Ulus Children's Hospital Ankara, Turkey
Department of Neonatology Sami Ulus Children's Hospital Ankara, Turkey
Sami Ulus Children's Hospital Ankara, Turkey
Department of Radiology Ba
Department of Pediatrics Metabolism and Nutrition Unit Hacettepe University Faculty of Medicine Ankara, Turkey
Department of Pediatrics Metabolism and Nutrition Unit Hacettepe University Faculty of Medicine Ankara, Turkey Glycine encephalopathy is a rare autosomal recessive metabolic disease characterized by glycine accumulation in body fluids owing to a defect in the glycine cleavage system. There are several forms of glycine encephalopathy. In the classic or neonatal form, symptoms usually develop as neurologic symptoms in the first few days of life. It characteristically presents with hypotonia, lethargy, apnea, and seizures and usually results in death by 1 year of age. Inthisreport,wepresenttwocasesofneonatalglycine encephalopathy accompanied by isolated pes equinovarus deformity. (J Child Neurol 2005;20:533—535).
Journal of Child Neurology, Vol. 20, No. 6,
533-535 (2005) |
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egul Zenciro
lu, MD