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Article

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.

The Journal of pediatrics - 1 Feb 1996

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

Abstract excerpt

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...

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PMID: 8636821
DOI: 10.1016/s0022-3476(96)70399-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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