Localized Proton MR Spectroscopic Detection of Nonketotic Hyperglycinemia in an Infant

Nonketotic hyperglycinemia (NKH) is a rare metabolic brain disease caused by deficient activity of the glycine cleveage system. Localized proton MR spectroscopy (echo-time 166 msec), performed in an infant with the typical clinical and biochemical features of neonatal NKH, showed a markedly increase...

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Detalles Bibliográficos
Autores principales: Choi, Choong-Gon, Lee, Ho Kyu, Yoon, Jong-Hyun
Formato: Texto
Lenguaje:English
Publicado: The Korean Radiological Society 2001
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718128/
https://www.ncbi.nlm.nih.gov/pubmed/11754333
http://dx.doi.org/10.3348/kjr.2001.2.4.239
Descripción
Sumario:Nonketotic hyperglycinemia (NKH) is a rare metabolic brain disease caused by deficient activity of the glycine cleveage system. Localized proton MR spectroscopy (echo-time 166 msec), performed in an infant with the typical clinical and biochemical features of neonatal NKH, showed a markedly increased peak intensity at 3.55 ppm, which was assigned to glycine. Serial proton MR spectrosocpic studies indicated that glycine/choline and glycine/total creatine ratios correlated closely with the patient's clinical course. Proton MR spectroscopy was useful for the non-invasive detection and monitoring of cerebral glycine levels in this infant with NKH.

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