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Updated: Jul 11, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course
Mary Anne Chiong1, Peter Procopis, Kevin Carpenter
1Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
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.
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