2010, Number 1
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Rev Cub Gen 2010; 4 (1)
Histidinemia and language disorders: case study and controls in a sample of the Cuban population
Robaina JZ, Bosch GD, Contreras RJ, Moreno AJA, Texidor LL, López BM, Morales PE, Fuentes SLE
Language: Spanish
References: 10
Page: 29-31
PDF size: 206.41 Kb.
ABSTRACT
Histidinemia is one of the most frequent innate errors
during childhood with a prevalence of nearly 1:15 000,
speech disorder being its more remarkable result. An
analytical study of cases was carried out to twenty children with language disorders due to unknown cause, while the control group was formed by 50 children without language alterations. In both groups the concentration of histidine in serum was determined by the fluorometric spectrometry and ultramicroanalytic methods. Both procedures showed that the probability of finding high levels of histidine in an individual with isolated language disorders of unknown cause was thirty times higher than the one observed in the control group. The second method also demonstrated being a useful tool for the determination of histidine levels in serum.
REFERENCES
Levy HL, Taylor RG, Mcinnes RR. Scriver CR. The Metabolic Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001.
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: {235800}: {2/23/2006}: World Wide Web URL: http:// www.ncbi.nlm.nih.gov/omim/
Gordon N. Delayed speech and histidinemia. Dev Med Child Neurol. 1990; 12:104.
Lott IT. Wheedlden JA, Levy HL. Speech and histidinemia:methodology and evaluation of four cases. Dev Med Child Neurol. 2000;12:596-6003.
Slocum RH, Cummings JG: Amino acid analysis of phisiological samples. Techniques in Diagnostic Human Biochemical Genetics. New York: Willey-Liss Press; 1991.
Histidinemia, a biochemical variant or a disease. Dept. of Pediatrics. Austria: Vienna University; 2006.
Scriver CR, Levy HL. Histidinemia. Part I: Reconciling retrospective and prospective findings. J Inherit Metab Dis. 1983;6:51-3.
Levy HL, Lessons from the past-lloking to the future. Newborn screening. Pediatr Ann. 2003;Aug.32 (8):505-8.
Widhalm K, Virmani K. Long-term follow-up of 58 patients with histidinemia treated with a histidine-restrited diet: no effect of therapy. Pediatrics. 1994;94:861-6.
Khanna R, Chang TM. Characterization of L-histidine ammonia- Iyase immobilized by microencapsulation in artificial cells: preparation, kinetics, stability and in vitro despletion of histidine. Int J Artif Organs. 1990;13:189-95.