Two cases of glycine encephalopathy accompanied by pes equinovarus


Zenciroglu A., Demirel N., BAŞ A. Y. , Aydemir C., Agtldere M., Kalkanoglu S., ...Daha Fazla

JOURNAL OF CHILD NEUROLOGY, cilt.20, ss.533-535, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 20 Konu: 6
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1177/08830738050200061301
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Sayfa Sayıları: ss.533-535

Özet

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.