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Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy
Author(s) -
Hall Deborah A.,
Ringel Steven P.
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10681
Subject(s) - chorea , hyperglycinemia , pediatrics , medicine , encephalopathy , dextromethorphan , psychiatry , glycine , biochemistry , chemistry , disease , amino acid
We report on a patient with mild episodic nonketotic hyperglycinemia (NKH) on valproate who developed episodes of encephalopathy and chorea provoked by a fever and protein loading. After treatment with sodium benzoate and dextromethorphan, the patient's encephalopathy resolved and her chorea improved. The importance of this case is in recognizing this rare syndrome, which may present in the adult population. © 2003 Movement Disorder Society