Nonketotic hyperglycinemia: A case report and brief review

BioMedicine (Netherlands)

Volumn 2, Issue 2, 2012, Pages 80-82

  Chang, Yu Tzu ^a   Lin, Wei De ^b   Chin, Zheng Nan ^a   Wang, Chung Shing ^a   Chou, I Ching ^a,b   Kuo, Huang Tsung ^a   Tsai, Fuu Jen ^a,b  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Neonatal seizure; Nonketotic hyperglycinemia

Indexed keywords

ANTICONVULSIVE AGENT; BENZOIC ACID; CLONAZEPAM; DEXTROMETHORPHAN; GLYCINE; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE;

AMINO ACID BLOOD LEVEL; APNEA; ARTICLE; BRAIN DEPTH RECORDING; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; DIET THERAPY; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG RESPONSE; EPILEPTIC DISCHARGE; FEMALE; HEART ARREST; HUMAN; HYPERGLYCINEMIA; INFANT; INTENSIVE CARE; MUSCLE HYPERTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; SEIZURE; SLEEP SPINDLE; SPIKE WAVE; TACHYCARDIA; TONIC SEIZURE;

EID: 84862762574     PISSN: 22118020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biomed.2012.04.002     Document Type: Article

References (21)

1. Tada K., Narisawa K., Yoshida T., Konno T., Yokoyama Y. Hyperglycinemia: a defect in glycine cleavage reaction. Tohoku J Exp Med 1969, 98:289-296.
2. Hoover-Fong J.E., Shah S., Van Hove J.L., Applegarth D., Toone J., Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 2004, 63:847-853.
3. Volpe J. Neurology of the newborn 2008, p. 659-67. 5th ed.
4. Aliefendioĝlu D., Tana Aslan A., Coşkun T., Dursun A., Cakmak F.N., Kesimer M. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol 2003, 28:151-155.
5. Applegarth D.A., Toone J.R., Lowry R.B. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000, 105:10.
6. Ichinohe A., Kure S., Mikawa S., Ueki T., Kojima K., Fujiwara K., et al. Glycine cleavage system in neurogenic regions. Eur J Neurosci 2004, 19:2365-2370.
7. Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Mol Genet Metab 2000, 70:116-121.
8. Applegarth D.A., Toone J.R. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab 2001, 74:139-146.
9. Tada K., Kure S. Non-ketotic hyperglycinaemia: molecular lesion, diagnosis and pathophysiology. J Inherit Metab Dis 1993, 16:691-703.
10. Dinopoulos A., Matsubara Y., Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 2005, 86:61-69.
11. Demirel N., Bas A.Y., Zenciroglu A., Aydemir C., Kalkanoglu S., Coskun T. Neonatal non-ketotic hyperglycinemia: report of five cases. Pediatr Int 2008, 50:121-123.
12. Kure S., Kato K., Dinopoulos A., Gail C., DeGrauw T.J., Christodoulou J., et al. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat 2006, 27:343-352.
13. Kure S., Korman S.H., Kanno J., Narisawa A., Kubota M., Takayanagi T., et al. Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test. Ann Neurol 2006, 59:862-867.
14. Suzuki Y., Kure S., Oota M., Hino H., Fukuda M. Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. Pediatr Neurol 2010, 43:221-224.
15. Kikuchi G., Motokawa Y., Yoshida T., Hiraga K. Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia. Proc Jpn Acad Ser B Phys Biol Sci 2008, 84:246-263.
16. Mourmans J., Majoie C.B., Barth P.G., Duran M., Akkerman E.M., Poll-The B.T. Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol 2006, 27:208-211.
17. Van Hove J.L., Kishnani P.S., Demaerel P., Kahler S.G., Miller C., Jaeken J., et al. Acute hydrocephalus in nonketotic hyperglycemia. Neurology 2000, 54:754-756.
18. Viola A., Chabrol B., Nicoli F., Confort-Gouny S., Viout P., Cozzone P.J. Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia. Pediatr Res 2002, 52:292-300.
19. Van Hove J.L., Vande Kerckhove K., Hennermann J.B., Mahieu V., Declercq P., Mertens S., et al. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis 2005, 28:651-663.
20. Morrison P.F., Sankar R., Shields W.D. Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia. Pediatr Neurol 2006, 35:356-358.
21. Hall D.A., Ringel S.P. Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy. Mov Disord 2004, 19:485-486.