- A Case of Korean Patient with Noketotic Hyperglycinemia: Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy
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Park KY, Kim AR, Kim KS, Pi SY, Ko TS, Lee JH, Yoo HW
- KMID: 2335504
- J Korean Pediatr Soc.
- 2000 Jul;43(7):993-999.
Nonketotic hyperglycinemia is an extremely rare congenital metabolic disorder, which is caused by the lack of a glycine cleavage system. The onset of hyperglycinemic symptom is during the neonatal or early infant... -
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- A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
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Yurttutan , Oncel MY, Yurttutan , Degirmencioglu H, Uras N, Dilmen U
- KMID: 1795120
- Korean J Pediatr.
- 2015 Jun;58(6):230-233.
- doi: 10.3345/kjp.2015.58.6.230
Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is... -
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- Localized Proton MR Spectroscopic Detection of Nonketotic Hyperglycinemia in an Infant
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Choi CG, Lee HK, Yoon JH
- KMID: 754095
- Korean J Radiol.
- 2001 Dec;2(4):239-242.
- doi: 10.3348/kjr.2001.2.4.239
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... -
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- Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia
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Shin JH, Ahn SY, Shin JH, Sung SI, Jung JM, Kim JK, Kim ES, Park HD, Kim JH, Chang YS, Park WS
- KMID: 2284311
- Korean J Pediatr.
- 2012 Aug;55(8):301-305.
- doi: 10.3345/kjp.2012.55.8.301
Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma,... -
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