Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations

R. D. Steiner*, D. A. Sweetser, J. R. Rohrbaugh, S. B. Dowton, J. R. Toone, D. A. Applegarth

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)243-246
Number of pages4
JournalJournal of Pediatrics
Volume128
Issue number2
DOIs
Publication statusPublished - 1996
Externally publishedYes

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