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Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.

Authors
  • Steiner, R D
  • Sweetser, D A
  • Rohrbaugh, J R
  • Dowton, S B
  • Toone, J R
  • Applegarth, D A
Type
Published Article
Journal
The Journal of Pediatrics
Publisher
Elsevier
Publication Date
Feb 01, 1996
Volume
128
Issue
2
Pages
243–246
Identifiers
PMID: 8636821
Source
Medline
License
Unknown

Abstract

A 16-year-old boy had intermittent chorea, delirium, and vertical gaze palsy precipitated by febrile illness. Nonketotic hyperglycinemia was confirmed by measurement of liver and lymphoblast glycine cleavage enzyme activity. Deficient but residual enzyme activity was demonstrated in both tissues, possibly accounting for the mild phenotype. Confirmation of an atypical variant of nonketotic hyperglycinemia with residual glycine cleavage enzyme activity has important implications for diagnosis and treatment.

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