Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1996 Feb;128(2):243-6.
doi: 10.1016/s0022-3476(96)70399-2.

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations

R D Steiner  1 , D A Sweetser, J R Rohrbaugh, S B Dowton, J R Toone, D A Applegarth
Affiliations
Case Reports

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations

R D Steiner et al. J Pediatr. 1996 Feb.

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.

PubMed Disclaimer

Publication types