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Glycine cleavage system and NKH

Glycine is broken down by 4 proteins in the glycine cleavage system: 1. P protein pops off the CO2 2. H protein holds what remains (amino methyl) 3. T protein transfers methylene to tetrahydrofolate & trims off ammonia 4. L protein regenerates lipoate (on the H protein) Deficiency in the enzymes of the glycine cleavage system or of lipoate synthesis can lead to non-ketotic hyperglycinemia (NKH). Since glycine is a neurotransmitter 🧠, NKH can cause seizures and developmental delays. Labs will show increased levels of glycine in plasma, urine, and CSF. Treatment includes benzoate (to reduce glycine levels) and dextromethorphan (to block the effect of glycine at neurotransmitter receptors). Support our rare disease education efforts by subscribing to the StudyRare newsletter for monthly board-style questions: https://studyrare.substack.com/ You can also support this channel by subscribing, following StudyRare on X/Twitter (@studyrare), or buying us a coffee: https://ko-fi.com/studyrare Learn more about our work at https://www.studyrare.com Thank you! Daniel