Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/186697
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- Title
- Nonketotic hyperglycinemia : atypical clinical and biochemical manifestations
- Related
- Journal of pediatrics, Vol. 128, Issue 2, (1996), p.243-246
- DOI
- 10.1016/S0022-3476(96)70399-2
- Publisher
- Elsevier
- Date
- 1996
- Author/Creator
- Steiner, Robert D
- Author/Creator
- Sweetser, David A
- Author/Creator
- Rohrbaugh, James R
- Author/Creator
- Dowton, S. Bruce
- Author/Creator
- Toone, Jennifer R
- Author/Creator
- Applegarth, Derek A
- Description
- 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.
- Description
- 4 page(s)
- Resource Type
- journal article
- Organisation
- Macquarie University. Office of the Vice-Chancellor
- Identifier
- http://hdl.handle.net/1959.14/186697
- Identifier
- ISSN:0022-3476
- Identifier
- mq_res-ext-2-s2.0-0030040890
- Language
- eng
- Reviewed
