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
Hiccups
Lethargy
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
Death
Notes:
Four forms of this disorder: neonatal form, an infantile form, a mild-episodic form, and a late-onset form
