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EEG findings as an aid to the diagnosis of neonatal non‐ketotic hyperglycinaemia
Author(s) -
Mises J.,
MoussaliSalefranques F.,
Laroque M. L.,
Ogier H.,
Coude F. X.,
Charpentier C.,
Saudubray J. M.
Publication year - 1982
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/bf01805576
Subject(s) - lethargy , myoclonic jerk , electroencephalography , medicine , hyperglycinemia , pediatrics , glycine , psychiatry , biology , biochemistry , amino acid
The periodic EEG pattern during the first week associated with lethargy and myoclonic jerks is the major clinical sign in non‐ketotic hyperglycinaemia. The blood and urine glycine level may be at the upper limit of the normal range in some cases. Diagnosis must be done with this characteristic clinical picture associated with a high CSF glycine level.