Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures

Pediatr Neurol. 2000 Mar;22(3):225-7. doi: 10.1016/s0887-8994(99)00138-1.

Abstract

An asphyxiated neonate with pyridoxine-dependent seizures and associated transient nonketotic hyperglycinemia is reported. Frequent seizures and their resultant hypoxic-ischemic insult may have led to the elevation of the cerebrospinal fluid glycine level in this patient. Early diagnosis and treatment of pyridoxine-dependent seizures is essential for an improved neurologic outcome.

Publication types

  • Case Reports

MeSH terms

  • Asphyxia Neonatorum / complications*
  • Asphyxia Neonatorum / metabolism
  • Brain / metabolism
  • Electroencephalography
  • Glycine / metabolism
  • Humans
  • Hyperglycinemia, Nonketotic / etiology*
  • Hyperglycinemia, Nonketotic / metabolism*
  • Infant, Newborn
  • Male
  • Pyridoxal Phosphate / therapeutic use
  • Seizures / etiology*
  • Seizures / physiopathology
  • Treatment Outcome
  • Vitamin B 6 Deficiency / complications*
  • Vitamin B 6 Deficiency / drug therapy

Substances

  • Pyridoxal Phosphate
  • Glycine