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A treatment of non‐ketotic hyperglycinaemia
Author(s) -
SchoosBarbette S.,
Gerard J.,
Francotte N.,
Lambotte C.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805601
Subject(s) - human genetics , medicine , pediatrics , chemistry , biochemistry , gene
The treatment comprising a special diet (without glycine, serine, and with a reduced amount of threonine), strychnine nitrate and ursodesoxycholic acid (UDCA) led to normoglycinaemia in this form of severe nonketotic glycine encephalopathy. Diet and treatment were well tolerated but without significant effect upon psychomotor development. This treatment should be more effective if administered before irreversible brain damage occurs, particularly in moderate and chronic forms of NKH.