Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course

Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course Late-onset nonketotic hyperglycinemia is very rare, presents with varied clinical features, and may be underdiagnosed. A 2-year-old girl with normal development had acute gait disturbance progressing to severe spastic diplegia. Plasma glycine levels were elevated, with a normal cerebrospinal fluid:plasma glycine ratio. Cranial magnetic resonance imaging revealed leukodystrophy. Nonketotic hyperglycinemia was confirmed enzymatically. At age 7 years, she cannot walk, but has borderline normal intelligence. Leukodystrophy and a normal cerebrospinal fluid:plasma glycine ratio were not previously reported in late-onset nonketotic hyperglycinemia. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric Neurology Elsevier

Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course

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Publisher
Elsevier
Copyright
Copyright © 2007 Elsevier Inc.
ISSN
0887-8994
DOI
10.1016/j.pediatrneurol.2007.05.016
Publisher site
See Article on Publisher Site

Abstract

Late-onset nonketotic hyperglycinemia is very rare, presents with varied clinical features, and may be underdiagnosed. A 2-year-old girl with normal development had acute gait disturbance progressing to severe spastic diplegia. Plasma glycine levels were elevated, with a normal cerebrospinal fluid:plasma glycine ratio. Cranial magnetic resonance imaging revealed leukodystrophy. Nonketotic hyperglycinemia was confirmed enzymatically. At age 7 years, she cannot walk, but has borderline normal intelligence. Leukodystrophy and a normal cerebrospinal fluid:plasma glycine ratio were not previously reported in late-onset nonketotic hyperglycinemia.

Journal

Pediatric NeurologyElsevier

Published: Oct 1, 2007

References

  • Adult nonketotic hyperglycinemia crisis presenting as severe chorea and encephalopathy
    Hall, D.A.; Ringel, S.P.
  • Atypical variants of nonketotic hyperglycinemia
    Dinopoulos, A.; Matsubara, Y.; Kure, S.
  • Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations
    Steiner, R.; Sweetser, D.; Rohrbaugh, J.; Dowton, B.; Toone, J.; Applegarth, D.

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