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

doi:10.1016/S0022-3476(96)70399-2

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 journal › Article › peer-review

45 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 language	English
Pages (from-to)	243-246
Number of pages	4
Journal	Journal of Pediatrics
Volume	128
Issue number	2
DOIs	https://doi.org/10.1016/S0022-3476(96)70399-2
Publication status	Published - 1996
Externally published	Yes

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title = "Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations",

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.",

author = "Steiner, \{R. D.\} and Sweetser, \{D. A.\} and Rohrbaugh, \{J. R.\} and Dowton, \{S. B.\} and Toone, \{J. R.\} and Applegarth, \{D. A.\}",

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T2 - atypical clinical and biochemical manifestations

AU - Steiner, R. D.

AU - Sweetser, D. A.

AU - Rohrbaugh, J. R.

AU - Dowton, S. B.

AU - Toone, J. R.

AU - Applegarth, D. A.

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0030040890

U2 - 10.1016/S0022-3476(96)70399-2

DO - 10.1016/S0022-3476(96)70399-2

M3 - Article

C2 - 8636821

AN - SCOPUS:0030040890

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VL - 128

SP - 243

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JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 2

ER -

Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations

Abstract

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