El-Gezeery, A. (2005). Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria. Journal of High Institute of Public Health, 35(1), 203-214. doi: 10.21608/jhiph.2005.180980
Amina El-Gezeery. "Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria". Journal of High Institute of Public Health, 35, 1, 2005, 203-214. doi: 10.21608/jhiph.2005.180980
El-Gezeery, A. (2005). 'Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria', Journal of High Institute of Public Health, 35(1), pp. 203-214. doi: 10.21608/jhiph.2005.180980
El-Gezeery, A. Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria. Journal of High Institute of Public Health, 2005; 35(1): 203-214. doi: 10.21608/jhiph.2005.180980
Inborn Errors of Metabolism among Suspected Patients Referred to the Genetic Clinic in Alexandria
Human Genetics Department, Medical Research Institute, University of Alexandria, Egypt
Abstract
One thousand patients referred to genetics clinic, Medical Research Institute, Alexandria, were subjected to biochemical genetic studies and clinical genetic examination to estimate the frequency of inborn errors of metabolism [IEM]. It was found that 70 [7%] patients had IEM. Of these, 34 [48.6%] had aminoacidopathies, 3 [4.3%] had galactosemia, and 33 [47.1%] had lysosomal storage disorders. Phenylketonuria was the most frequent IEM [37.2%]. The rate of consanguinity among parents of patients with IEM was high [77.1%] with 58.6% first cousins. Positive family history of more than one affected child was detected in 22 [31.4%] families of the patients with IEM. Detection of IEM is important because it may allow a specific treatment for the patients and Proper genetic counseling for the family.
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