- Case Report
- A Case of Korean Patient with Nonketotic Hyperglycinemia; Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy
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Kie-Young Park, Ai-Rhan Kim, Ki-Soo Kim, Soo-Young Pi, Tae-Sung Ko, Jung-Hee Lee, Han-Wook Yoo
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Clin Exp Pediatr. 2000;43(7):993-999. Published online July 15, 2000
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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 period. Progressing grave neuromotor dysfunction is one of the main symptoms.
They include myoclonic seizure, hiccup, apnea, decreased deep tendon reflex, lethargy and
coma. The prognosis is mostly very poor. Furthermore, there... |
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