Bibliography
- Hamosh A , JohnstonMV: Nonketotic hyperglycinemia. In:The Metabolic and Molecular Bases of Inherited Disease (8th Edition), Sciver CR, Beaudet AL, Sly WS, Valle D (Eds). McGraw-Hill, NY, USA, 2065–2078 (2001).
- Kure S , KojimaK, IchinoheAet al.: Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.Ann. Neurol.52, 643–646 (2002).
- Applegarth DA , TooneJR: Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.Mol. Genet. Metab.74, 139–146 (2001).
- Applegarth DA , TooneJR: Workshop report. Glycine encephalopathy (nonketotic hyperglycinemia): review and update.J. Inherit. Metab. Dis.27, 417–422 (2004).
- Lipton SA , RosenbergPA: Excitatory amino acids as a final common pathway for neurological disorders.N. Engl. J. Med.330, 613–621 (1994).
- Nguyen L , RigoJM, RocherVet al.: Neurotransmitters as early signals for central nervous system development.Cell Tissue Res.305, 187–202 (2001)
- Applegarth DA , TooneJR, LowryRB: Incidence of inborn errors of metabolism in British Columbia, 1969–1996.Pediatrics105, E10 (2000).
- Hennermann JB , Berger J-M, van Hove JLK: Prognostic factors indicating the outcome of glycine encephalopathy: a follow-up of 40 children. J. Inherit. Metab. Dis.29(Suppl. 1), 49 (2006).
- Hoover-Fong JE , ShahS, van Hove JLK, Applegarth D, Toone J, Hamosh A: Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 64, 1847–1853 (2004).
- Van Hove JLK , MahieuV, SchollenEet al.: Prognosis in nonketotic hyperglycinemia.J. Inherit. Metab. Dis.26(Suppl. 2), S71 (2003).
- Kure S , IchinoheA, KojimaKet al.: Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.J. Pediatr.144, 827–829 (2004).
- Flannery DB , PellockJ, BousounisD, HuntP, Nance C, Wolf B: Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia. Neurology33, 1064–1066 (1983).
- Dinopoulos A , KureS, ChuckGet al.: Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.Neurology64, 1255–1257 (2005).
- Dinopoulos A , MatsubaraY, KureS: Atypical variants of nonketotic hyperglycinemia.Mol. Genet. Metab.86, 61–99 (2005).
- Flusser H , KormanSH, SatoK, MatsubaraY, GalilA, KureS: Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation.Neurology64, 1426–1430 (2005).
- Korman SH , BonehA, IchinoheAet al.: Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.Ann. Neurol.56, 139–143 (2004).
- Christodoulou J , KureS, HayasakaK, ClarkeJTR: Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.J. Pediatr.123, 100–102 (1993).
- Frazier DM , SummerGK, ChamberlinHR: Hyperglycinuria and hyperglycinemia in two siblings with mild developmental delays.Am. J. Dis. Child.132, 777–781 (1978).
- Haan E , KirbyDM, TadaK, HayasakaK, DanksDM: Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinemia. Observations on sisters with a mild T-protein defect.Euro. J. Pediatr.145, 267–270 (1986).
- Hayasaka K , TadaK, FuekiNet al.: Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.J. Pediatr.110, 873–877 (1987).
- Holmgren G , Kison Blomquist H: Nonketotic hyperglycinemia in two sibs with mild psycho-neurological development. Neuropädiatrie8, 67–72 (1977).
- Jackson AH, Applegarth DA, Toone JR, Kure S, Levy HL: Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio. J. Child. Neurol.14, 464–467 (1999).
- Nanao K , Okamura-IkedaK, MotokawaYet al.: Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.Hum. Gen.93, 655–658 (1994).
- Neuberger JM , SchweitzerS, RollandMO, Burghard R: Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. J. Inherit. Metab. Dis.23, 22–26 (2000).
- Singer HS , ValleD, HayasakaK, TadaK: Nonketotic hyperglycinemia: studies in an atypical variant.Neurology39, 286–288 (1989).
- Steiner RD , SweetserDA, RohrbaughJR, DowtonSB, TooneJR, ApplegarthDA: Nonketotic hyperglycinemia: atypical clinical and biochemical manifestations.J. Pediatr.128, 243–246 (1996).
- Trauner DA , PageT, GrecoC, SweetmanL, Kulovich S, Nyhan WL: Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. J. Pediatr.98, 272–275 (1981).
- Wraith JE : Nonketotic hyperglycinemia: prolonged survival in a patient with a mild variant.J. Inher. Metab. Dis.19, 695–696 (1996).
- Borrone C , BachmannC, DiRoccoM, Tada K, Hayasaka K, Gatti R: Atypical non-ketotic hyperglycinemia. J. Inherit. Metab. Dis.9, 402–403 (1986).
- Steiman GS , YudkoffM, BermanPH, Blazer-YostB, SegalS: Late-onset nonketotic hyperglycinemia and spinocerebellar degeneration.J. Pediatr.94, 907–911 (1979).
- Hasegawa T , ShigaY, MatsumotoA, TakedaA, ItoyamaY: Late-onset nonketotic hyperglycinemia: a case report.No To Shinkei54, 1068–1072 (2002).
- Bank WJ , MorrowG: Familial neuromuscular disease with nonketotic hyperglycinemia.Trans. Am. Neurol. Assoc.96, 21–23 (1971).
- Cole DEC , MeekDC: Juvenile non-ketotic hyperglycinemia in three siblings.J. Inher. Metab. Dis.8(Suppl. 2), 123–124 (1985).
- Hall DA , RingelSP: Adult nonketotic hyperglycinemia crisis presenting as severe chorea and encephalopathy.Movement Disorders19, 485–486 (2004).
- Tanaka Y , MiyazakiM, TsudaM, MuraiK, Kuzuhara S: Blindness due to non-ketotic hyperglycinemia: report of a 38-year-old, the oldest case to date. Intern. Med.32, 641–642 (1993).
- Witshire EJ , PoplawskiNK, HarrisonJR, FletcherJM: Treatment of late-onset nonketotic hyperglycinaemia: effectiveness of imipramine and benzoate.J. Inherit. Metab. Dis.23, 15–21 (2000).
- Hayasaka S , SetogawaT, HaraS, IshizawaS, Hayasaka K, Tada K: Nystagmus and subnormal electroretinographic response in nonketotic hyperglycinemia. Graefes. Arch. Clin. Exp. Ophthalmol.225, 277–278 (1987).
- Aliefendioglu D , AslanAT, CoskunT, DursunA, CakmakFN, KesimerM: Transient nonketotic hyperglycinemia: two case reports and literature review.Pediatr. Neurol.28, 151–155 (2003).
- Luder AS , DavidsonA, GoodmanSI, GreeneCL: Transient nonketotic hyperglycinemia in neonates.J. Pediatr.114, 1013–1015 (1989).
- Schiffmann R , KayeEM, WillisJK, AfrickD, Ampola M: Transient neonatal hyperglycinemia. Ann. Neurol.25, 201–203 (1989).
- Eyskens FJM , Van Doorn JWD, Marien P: Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate. J. Pediatr.121, 620–621 (1992).
- Zammarchi E , DonatiMA, CianiF: Transient neonatal hyperglycinemia: a 13-year follow-up.Neuropediatrics26, 328–330 (1995).
- Maeda T , InutsukaM, GotoK, IzumiT: Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures.Pediatr. Neurol.22, 225–227 (2000).
- Alejo J , RinconP, VaquerizoJ, GilC, PlasenciaA, GallardoR: Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI: case report.Neuroradiology39, 658–660 (1997).
- Vaquerizo J , RinconP, SanchezAJet al.: Non-ketotic hyperglycinemia. Transient neonatal form.Rev. Neurol.24, 293–295 (1996).
- Kure S , KojimaK, IchinoheAet al.: Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.Ann. Neurol.52, 643–646 (2002).
- Von Wendt L , SimilaS, HirvasniemiA, SuvantoE: Altered levels of various amino acids in blood plasma and cerebrospinal fluid of patients with nonketotic hyperglycinemia.Neuropädiatrie9, 360–368 (1978).
- Tada K , HayasakaK: Non-ketotic hyperglycinaemia: clinical and biochemical aspects.Eur. J. Pediatr.146, 221–227 (1987).
- Takayanagi M , KureS, SakataYet al.: Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.Hum. Genet.106, 298–305 (2000).
- Kure S , TakayanagiM, NarisawaK, TadaK, LeistiJ: Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.J. Clin. Invest.90, 160–164 (1992).
- Toone JR , ApplegarthDA, Coulter-MackieMB, James ER: Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Mol. Genet. Metab.70, 116–121 (2000).
- Conter C , RollandMO, CheillanD, BonnetV, Maire I, Froissart R: Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. J. Inherit. Metab. Dis29, 135–142 (2006).
- Kure S , KatoK, DinopoulosAet al.: Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum. Mutat.27, 343–52 (2006).
- Nanao K , TakadaG, TakahashiEet al.: Structure and chromosomal localization of the aminomethyltransferase gene (AMT).Genomics19, 27–30 (1994). Erratum in: Genomics20, 519 (1994).
- Kure S , MandelH, RollandMOet al.: A missense mutation (His42Arg) in the T-protein gene from a large Israeli–Arab kindred with nonketotic hyperglycinemia. Hum. Genet.102, 430–434 (1998).
- Boneh A , KormanSH, SatoKet al.: A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.J. Hum. Genet.50, 230–4 (2005).
- Kure S , KojimaK, KudoTet al.: Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.J. Hum. Genet.46, 378–84 (2001).
- Mises J , Moussali-SalefranquesF, Laroque MLet al.: EEG findings as an aid to the diagnosis of neonatal nonketotic hyperglycinemia. J. Inherit. Metab. Dis.5(Suppl. 2), 117–120 (1982).
- Press GA , BarshopBA, HaasRH, Nyhan WL, Glass RF, Hesselink JR: Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. Am. J. Neuroradiol.10, 315–321 (1989).
- Bekiesinska-Figatowska M , RokickiD, WaleckiJ: MRI in nonketotic hyperglycinaemia: case report.Neuroradiology43, 792–793 (2001).
- Dobyns WB : Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia.Neurology39, 817–820 (1989).
- Gabis L , PartonP, RocheP, LennN, TudoricaA, HuangW: In vivo1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia.J. Neuroimaging11, 209–211 (2001).
- Khong P -L, Lam BCC, Chung BHY, Wong K-Y, Ooi G-C: Diffusion-weighted imaging in neonatal nonketotic hyperglycinemia. Am. J. Neuroradiol.24, 1181–1183 (2003).
- Mourmans J , MajoieCBLM, BarthPG, DuranM, AkkermanEM, Poll-TheBT: Sequential MR imaging changes in nonketotic hyperglycinemia.Am. J. Neuroradiol.27, 208–211 (2006).
- Senner RN : Nonketotic hyperglycinemia: diffusion magnetic resonance imaging findings.J. Comput. Assist. Tomogr.27, 538–540 (2003).
- Shah DK , TingayDG, FinkAM, Hunt RW, Dargaville PA: Magnetic resonance imaging in neonatal nonketotic hyperglycinemia. Pediatric Neurology33, 50–52 (2005).
- Van Hove JLK , KishnaniPS, DemaerelPet al.: Acute hydrocephalus in nonketotic hyperglycinemia. Neurology54, 754–756 (2000).
- Heindel W , KugelH, RothB: Noninvasive detection of increased glycine content by proton MR spectroscopy in the brains of two infants with nonketotic hyperglycinemia.Am. J. Neuroradiol.14, 629–635 (1993).
- Choi C-G L ee HK, Yoon J-H: Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant. Korean J. Radiol.2, 239–242 (2001).
- Van Hove JLK , KishnaniP, MuenzerJet al.: Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.Am. J. Med. Genet.59, 444–453 (1995).
- Wolff JA , KulovichS, YuAL, Qiao C-N, Nyhan WL: The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. Am. J. Dis. Child.140, 596–60 (1986).
- Van Hove JLK , Vande Kerckhove K, Hennermann JBet al.: Benzoate treatment and the glycine index in nonketotic hyperglycinemia. J. Inherited. Metab. Dis.28, 651–663 (2005).
- Hamosh A , MaherJF, BellusGA, Rasmussen SA, Johnston MV: Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. J. Pediatr.132, 709–713 (1998).
- Schmitt B , SteinmannB, GitzelmannR, Thun-HohensteinL, MascherH, DfumermuthG: Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextrometorphan, an antagonist of the NMDA receptor.Neurology43, 421–424 (1993).
- Matsuo S , InoueF, TakeuchiY, YoshiokaH, Kinugasa A, Sawada T: Efficacy of tryptophan for the treatment of nonketotic hyperglycinemia: a new therapeutic approach for modulating the N-methyl-D-aspartate receptor. Pediatrics95, 142–146 (1995).
- Ohya Y , OchiN, MizutaniN, HayakawaC, Watanabe K: Nonketotic hyperglycinemia: treatment with NMDA antagonist and consideration of neuropathogenesis. Pediatr. Neurol.7, 65–68 (1991).
- Matalon R , NaiduS, HughesJR, MichalsK: Nonketotic hyperglycinemia: treatment with diazepam – a competitor for glycine receptors.Pediatrics71, 581–584 (1983).
- Jones CM , SmithM, HendersonMJ: Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolismAnn. Clin. Biochem.43, 63–66 (2006).