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Journal of Child Neurology
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Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio

Anthony H. Jackson, MD

Department of Pediatrics Baystate Medical Center Springfield, Massachusetts Department of Pediatrics Tufts University School of Medicine Boston, Massachusetts

Derek A. Applegarth, PhD

Biochemical Diseases Laboratory British Columbia Children's Hospital Vancouver, British Columbia, Canada

Jennifer R. Toone, BSc

Departments of Biochemical Genetics and Pediatrics Tohoku University School of Medicine Sendai, Japan

Shigeo Kure, MD

Departments of Biochemical Genetics and Pediatrics Tohoku University School of Medicine Sendai, Japan

Harvey L. Levy, MD

Division of Genetics, Children's Hospital Department of Pediatrics Harvard Medical School Boston, Massachusetts

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).

Journal of Child Neurology, Vol. 14, No. 7, 464-467 (1999)
DOI: 10.1177/088307389901400710
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This article has been cited by other articles:


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A. Zenciroglu, N. Demirel, C. Aydemir, M. Ag{tau}ldere, S. Kalkanoglu, and T. Coskun
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J Child Neurol, June 1, 2005; 20(6): 533 - 535.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
A. Zenciroglu, N. Demirel, A. Y. Bas, C. Aydemir, M. Aggldere, S. Kalkanoglu, and T. Coskun
Two Cases of Glycine Encephalopathy Accompanied by Pes Equinovarus
J Child Neurol, June 1, 2005; 20(6): 533 - 535.
[Abstract] [PDF]