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.
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
MLA
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
HARVARD
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
VANCOUVER
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
)
View on SCiNiTO