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Glycine encephalopathy
rareGlycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
- Identifiers
- MONDO:0011612 Orphanet:407
- Part of
- Brain disorderHereditary neurological diseaseInborn disorder of amino acid metabolismInborn disorder of serine family metabolism
- Also known as
- GCE · Glycine synthase deficiency · hyperglycinemia nonketotic · NKA · non-ketotic hyperglycinemia
Subtypes
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