Study of amino acid disorders among a high risk group of Egyptian infants and children

Aim of the work: The present work aimed at investigating infants (In neonatal and post neonatal period) and children suspected of having inborn errors of metabolism with unexplained mental retardation. The frequency pattern of the various amino acid disorders, in a group of selected infants and children was done to document the prevalence of various amino acid disorders among Egyptian children. Patients and Method: In this study, recent methods to investigate such disorders have been carried out by amino acid analyzer which detects levels of amino acids. Extended metabolic screen which also detects amino acid disorders, organic acid disorders and the defects of fatty acid oxidation has been carried out. These recent methods have therefore the potential of yielding information on the physiological and pathophysiological status of different metabolic pathways, as well as their interrelationship. Results: The total number of cases attending the outpatient clinic during the period of study were 1343 index cases, among them 50 index cases (3.72%) were suspected of having inborn errors of amino acid and, 20 cases (40%) of them have confirmed positive inborn errors of amino acid metabolism. Concerning the confirmed 20 cases, their ages ranged from 5 days to 11 years with a mean of 54.75±33.09 months with equally sex distribution. The overall consanguinity rate recorded was 65%, while the family history of the similarly affected cases was 30%. The main clinical findings included mental retardation 85%, convulsions 40%, and hypo pigmentation 75%, micro-cephally 15%. Associated anomalies were present in 35% of cases. Among them eye anomalies were the most common (8%). Conclusion: The prevalence of amino-acido-pathies during the period of the study was 1.5% (Of 20 studied cases), among them PKU was found to be the commonest amino-acido-pathies 1.11%, while the remaining diagnosed cases representing 0.07% for each. Keywords: Amino acid disorders, high risk, children Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 173-19