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.
Chiong
Mary Anne
MA
Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Procopis
Peter
P
Carpenter
Kevin
K
Wilcken
Bridget
B
D017668:Age of Onset; D001928:Brain Diseases, Metabolic / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D002547:Cerebral Palsy / Q000209:etiology; D002675:Child, Preschool; D005260:Female; D005684:Gait; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000150:complications* / Q000453:epidemiology*; D008279:Magnetic Resonance Imaging
D005998:Glycine