Non-ketotic hyperglycinemia
Hiperglicinemia no cetósica
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Perna Contreras, J. A., Gutierrez Sánchez, C., & Pérez Duarte, H. A. (2001). Non-ketotic hyperglycinemia. Journal of Medicine and Surgery Repertoire, 10(3), 42–46. https://doi.org/10.31260/RepertMedCir.v10.n3.2001.265
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Abstract
Non-ketotic hyperglycinemia is an autosomal recessive disease, characterized by high concentrations of glycine in body fluids, without finding organic acids in blood or urine, which differentiates it from ketotic hyperglycinemia. The classic presentation is that of a younger infant with an overwhelming disease; Survivors often have intractable seizures associated with myoclonus and with little or no brain development. the spectrum includes different clinical phenotypes: neonatal, infantile delayed onset and transient.
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References
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2. Behrman R, Kliegman R, Arbin A. Tratado de Pediatria, 15' ed. Mac Graw Hill Panamericana, 1997. p411-526.
3. Loredo A. Medicina Interna Pediátrica,3a ed. México Mac Graw Hill, 1996.
4. Hayasaka K et al. Nonketotic Hyperglycinemia: Analysis of glycine cleavage system in typical and atypical cases. J.Pediatrics 1987; 110: 873.
5. Kure, Shigeo et al. Identification of a Common Mutation in Finnish patients with Nonketotic Hyperglycinemia. J. Clin, Invest 1992; 90: 160-4.
6. Scriver C et al: Plasma-CSF Glycine Ratio in normal and Nonketotic Hyperglycinemic subjects. N.England J.Med 1975; 293: 778.
7. Wolff J,et al. The Effectiveness of Benzoate in the Management of Seizures in Nonketotic Hyperglycinemia. A.J.D.C. 1986; 140: 596-602.
8. Hamosh A, et al. Dextrometorphan and high-12 benzoate the therapyc for Nonketotic Hyperglycenemia in an infant. J.Pediatrics; 1992; 121: 131-5.