Two cases of glycine encephalopathy accompanied by pes equinovarus

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

JOURNAL OF CHILD NEUROLOGY, vol.20, no.6, pp.533-535, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 6
  • Publication Date: 2005
  • Doi Number: 10.1177/08830738050200061301
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.533-535
  • Hacettepe University Affiliated: No

Abstract

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.