Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations

American Journal of Medical Genetics

Volumn 140 A, Issue 2, 2006, Pages 186-188

  Applegarth, Derek A ^a   Toone, Jennifer R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOMETHYLTRANSFERASE; BENZOIC ACID; CARBOXYLYASE; DEXTROMETHORPHAN; GLYCINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); METHYLTRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID METABOLISM; AMT GENE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; CANADA; CHORION VILLUS SAMPLING; COMPLEX FORMATION; GENE; GENE MUTATION; GLDC GENE; GLYCINE ENCEPHALOPATHY; HUMAN; HYPERGLYCINEMIA; INCIDENCE; NOTE; PATHOPHYSIOLOGY; POSTNATAL CARE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEIZURE;

AMINOMETHYLTRANSFERASE; GLYCINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); HUMANS; HYPERGLYCINEMIA, NONKETOTIC; MUTATION;

EID: 30144439605     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31030     Document Type: Note

References (10)

1. Applegarth DA, Toone JR. 2001. Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis. Mol Genet Metab 74:139-146.
2. Applegarth DA, Toone JR. 2004. Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update. J Inherit Metab Dis 27:417-422.
3. Applegarth DA, Toone JR, Lowry RB. 2000a. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105:e10.
4. Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DK, Bemis G. 2000b. Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses. Prenat Diagn 20:367-370.
5. Brun A, Borjeson M, Hultberg B, Sjoblad S, Akesson H, Litwin E. 1979. Neonatal non-ketotic hyperglycinemia: A clinical, biochemical and neuropathological study including electron microscopic findings. Neuropadiatrie 10:195-205.
6. Hamosh A, Johnston MV. 2001. Non-ketotic hyperglycinemia. In: Scriver CR, Beaudet AI, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease (8th edn). New York: McGraw-Hill. pp 2065-2078.
7. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. 2004. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 63:1847-1853.
8. Ichinohe A, Kojima K, Aoki Y, Suzuki Y, Iinuma K, Sato K, Matsubara Y, Kure S. 2003. Seizures and brain malformations in model mice for glycine encephalopathy. J Inherit Metab Dis 26:65.
9. Ichinohe A, Kure S, Mikawa S, Ueki T, Kojima K, Fujiwara K, Iinuma K, Matsubara Y, Sato K. 2004. Glycine cleavage system in neurogenic regions. Eur J Neurosci 19:2365-2370.
10. Shuman RM, Leech RW, Scott CR. 1978. The neuropathology of the nonketotic and ketotic hyperglycinemias: Three cases. Neurology 28:139-146.