Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio

The diagnosis of nonketotic hyperglycinemia is considered to depend upon the presence of increased cerebrospinal fluid glycine and an increased cerebrospinal fluid to plasma glycine ratio. We studied two siblings who have the neurologic and peripheral biochemical features of the atypical variant of...

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Bibliographic Details
Published in:Journal of child neurology 1999-07, Vol.14 (7), p.464-467
Main Authors: Jackson, Anthony H., Applegarth, Derek A., Toone, Jennifer R., Kure, Shigeo, Levy, Harvey L.
Format: Article
Language:English
Subjects:
Adolescent
Child
Developmental Delays
Epilepsy, Complex Partial - etiology
Epilepsy, Complex Partial - metabolism
Evidence
Female
Glycine - blood
Glycine - cerebrospinal fluid
Glycine - metabolism
Glycine - urine
Humans
Hyperglycinemia, Nonketotic - complications
Hyperglycinemia, Nonketotic - diagnosis
Hyperglycinemia, Nonketotic - metabolism
Intelligence Quotient
Male
Measurement Techniques
Pregnancy
Seizures
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Summary:The diagnosis of nonketotic hyperglycinemia is considered to depend upon the presence of increased cerebrospinal fluid glycine and an increased cerebrospinal fluid to plasma glycine ratio. We studied two siblings who have the neurologic and peripheral biochemical features of the atypical variant of nonketotic hyperglycinemia but have normal cerebrospinal fluid glycine and cerebrospinal fluid to plasma glycine ratios. The proband had reduced liver glycine cleavage system activity of 17% and 21% of mean normal values, confirmed in two independent laboratories. Her lymphoblast glycine cleavage system activity was normal. Nonketotic hyperglycinemia can be present in the absence of increased cerebrospinal fluid glycine. Measurement of liver glycine cleavage system activity is indicated when nonketotic hyperglycinemia is suggested by clinical features and peripheral glycine levels but cerebrospinal fluid glycine is normal. (J Child Neurol 1999;14:464-467).
ISSN:0883-0738
1708-8283
DOI:10.1177/088307389901400710