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Two Cases of Glycine Encephalopathy Accompanied by Pes Equinovarus

Ayegul Zencirolu, MD

Department of Neonatology Sami Ulus Children's Hospital Ankara, Turkey, aysegulz{at}med.unc.edu

Nihal Demirel, MD

Department of Neonatology Sami Ulus Children's Hospital Ankara, Turkey

Cumhur Aydemir, MD

Sami Ulus Children's Hospital Ankara, Turkey

Muhtesem Agldere, MD

Department of Radiology Bakent University Hospital Ankara, Turkey

Serap Kalkanoglu, MD

Department of Pediatrics Metabolism and Nutrition Unit Hacettepe University Faculty of Medicine Ankara, Turkey

Turgay Coskun, MD

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. In this report, we present two cases of neonatal glycine 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)
DOI: 10.1177/088307380502000613


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