Glycine encephalopathy is associated with a mutation that reduces metabolism of glycine. The glycine breath test indirectly measures the metabolism of glycine and can be used as a relatively inexpensive way to support the diagnosis.
Patient selection: suspected glycine encephalopathy
Marker: [1-(13)C]glycine
With normal glycine metabolism the marker is degraded, releasing 13-CO2 which is measured.
Interpretation:
• With severe glycine encephalopathy very little if any 13-CO2 is released.
• With mild glycine encephalopathy some 13-CO2 may be released but less than normal controls.
Performance:
• All of the exhaled breath must be properly collected.
• Testing needs to be performed accurately.
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Specialty: Endocrinology, Clinical Laboratory, Genetics
