Localized Proton MR Spectroscopic Detection of Nonketotic Hyperglycinemia in an Infant
نویسندگان
چکیده
Nonketotic hyperglycinemia (NKH) is a rare metabolic brain disease caused by deficient activity of the glycine cleavage 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 spectroscopic 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.
منابع مشابه
Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia.
Using localized 1H-MR spectroscopy (1H-MRS) an inborn error of metabolism within human brain could be demonstrated, while 1H-MR imaging did not show any pathologic findings like demyelination. In two children suffering from nonketotic hyperglycinemia, the proton spectrum exhibited a large glycine signal at 3.55 ppm. In patient 1 (49-day-old girl), the pathologic signal of the inhibitory neurotr...
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عنوان ژورنال:
دوره 2 شماره
صفحات -
تاریخ انتشار 2001