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Ketogenic diets in patients with inherited metabolic disorders.
Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D. Scholl-Bürgi S, et al. J Inherit Metab Dis. 2015 Jul;38(4):765-73. doi: 10.1007/s10545-015-9872-2. Epub 2015 Jun 25. J Inherit Metab Dis. 2015. PMID: 26109259 Review.
Moreover, in other IMD, mainly of intermediary metabolism such as glycogen storage diseases and disorders of mitochondrial energy supply, KDs may ameliorate clinical symptoms and laboratory parameters. KDs have also been used successfully to treat symptoms such as seizures …
Moreover, in other IMD, mainly of intermediary metabolism such as glycogen storage diseases and disorders of mitochondrial energy supply, KD …
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.
Van Hirtum LDFM, Van Damme T, Van Hove JLK, Steyaert JG. Van Hirtum LDFM, et al. Orphanet J Rare Dis. 2024 Apr 8;19(1):150. doi: 10.1186/s13023-024-03172-3. Orphanet J Rare Dis. 2024. PMID: 38589924 Free PMC article.
AIM: We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phenotype and age, sex, plasma glycine levels an …
AIM: We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non- …
Early myoclonic encephalopathy.
Kamate M, Mahantshetti N, Chetal V. Kamate M, et al. Indian Pediatr. 2009 Sep;46(9):804-6. Indian Pediatr. 2009. PMID: 19812426 Free article.
We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia....
We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia....
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.
Cusmai R, Martinelli D, Moavero R, Dionisi Vici C, Vigevano F, Castana C, Elia M, Bernabei S, Bevivino E. Cusmai R, et al. Eur J Paediatr Neurol. 2012 Sep;16(5):509-13. doi: 10.1016/j.ejpn.2011.12.015. Epub 2012 Jan 18. Eur J Paediatr Neurol. 2012. PMID: 22261077
The neonatal form of non ketotic hyperglycinemia presents in the first days of life with encephalopathy, seizures, multifocal myoclonus and characteristic "hiccups". ...Ketogenic diet has been successfully tried for refractory epilepsy in pediatric patients. …
The neonatal form of non ketotic hyperglycinemia presents in the first days of life with encephalopathy, seizures, mult …
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564
Five patients presenting with non-ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. ...
Five patients presenting with non-ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to n …
Early epileptic encephalopathy with suppression burst electroencephalographic pattern--an analysis of eight Taiwanese patients.
Chen PT, Young C, Lee WT, Wang PJ, Peng SS, Shen YZ. Chen PT, et al. Brain Dev. 2001 Nov;23(7):715-20. doi: 10.1016/s0387-7604(01)00285-6. Brain Dev. 2001. PMID: 11701284
For EIEE, two cases had migrational disorders, and one was cryptogenic; for EME, three cases had non-ketotic hyperglycinemia (NKH), one was pyridoxine dependency and one was cryptogenic. ...
For EIEE, two cases had migrational disorders, and one was cryptogenic; for EME, three cases had non-ketotic hyperglycinemi …
The controversy regarding diagnostic criteria for early myoclonic encephalopathy.
Wang PJ, Lee WT, Hwu WL, Young C, Yau KI, Shen YZ. Wang PJ, et al. Brain Dev. 1998 Oct;20(7):530-5. doi: 10.1016/s0387-7604(98)00042-4. Brain Dev. 1998. PMID: 9840674
During the past 2 years, five patients with erratic, fragmentary myoclonus of neonatal onset, in association with other types of seizures, were analyzed with regard to etiologies, electroclinical features and their evolution, using a series of examinations including electroenceph …
During the past 2 years, five patients with erratic, fragmentary myoclonus of neonatal onset, in association with other types of seizures, w …