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

45 Citations (Scopus)


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
Issue number2
Publication statusPublished - 1996
Externally publishedYes


Dive into the research topics of 'Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations'. Together they form a unique fingerprint.

Cite this