Nonketotic hyperglycinemia Glycine encephalopathy

Nonketotic hyperglycinemia
  • Facts:
    AR, neurometabolic disorder

    Inborn error of metabolism characterized by the accumulation of large amounts of the amino acid glycine in blood, urine and, particularly, the cerebrospinal fluid (CSF)
  • History / PE:
    Seizures, encephalopathy
    Severe hypotonia
    Progressive apnea
  • Diagnosis:
    Elevated glycine levels in CSF and in plasma
    Enzymatic analysis of liver tissue
  • Treatment:
    1) Sodium benzoate (combines with glycine to form water solube Hippurate)
    2) Dextromethorphan
  • Complications:
    Profound mental retardation
  • Notes:
    Four forms of this disorder: neonatal form, an infantile form, a mild-episodic form, and a late-onset form

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August 25th 2010