Inborn errors of metabolism among suspected patients referred to the genetics clinic in Alexandria

ABSTRACT

One thousand patients referred to genetics clinic, Medical Research Institute, Alexandria, were subjected to biochemical genetic studies and clinical genetic examinations to estimate the frequency of inborn errors of metabolism [IEM]. It was found that 70 [7%] patients had EM. Of these, 34 [48.6%] had aminoacidopathies, 3 [4.3%] had galactosemia, and 33 [47.1%] had lysosomal storage disorders. Phenylketonuria wqs the most frequent IEM [37.2%]. The rate of consanguinity among parents of patients with EM 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 EM. Detection of IEM is important because it may allow a specific treatment for the patients and proper genetic counseling for the family