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Newborn screening for certain treatable inborn errors of metabolism in Alexandria
S R Ismail1, N Abdel-Rahim, M M Hashishe
1Department of Human Genetics, Medical Research Institute.
Insights
Newborn screening identified one case of transient hyperphenylalaninemia and one presumptive galactosemia case. Early detection and management of metabolic disorders like phenylketonuria are crucial for preventing intellectual disability.
Area of Science:
- Medical Genetics
- Neonatal Screening
- Inborn Errors of Metabolism
Background:
- Newborn screening programs are vital for early detection of treatable genetic disorders.
- Inborn errors of metabolism can lead to severe developmental issues if not managed promptly.
- Alexandria implemented a screening program for phenylketonuria, galactosemia, and congenital hypothyroidism.
Purpose of the Study:
- To screen newborn infants for phenylketonuria (PKU), galactosemia, and congenital hypothyroidism.
- To assess the prevalence of these conditions in a general newborn population and high-risk families.
- To enable early intervention and prevent associated mental retardation.
Main Methods:
- Two groups of infants were screened: 3000 general attendees (Group A) and 9 high-risk infants (Group B).
- Screening involved biochemical tests for PKU and galactosemia, and thyroid-stimulating hormone (TSH) levels for hypothyroidism.
- Positive results were re-evaluated, and affected infants received appropriate management.
Main Results:
- Group A: One case of transient hyperphenylalaninemia (0.33%) and one presumptive galactosemia case (0.33%) were identified.
- Eleven infants initially showed high TSH levels, but re-evaluation confirmed they were euthyroid.
- Group B: Four infants from PKU families were detected and initiated on dietary management.
Conclusions:
- Early detection of metabolic disorders through newborn screening is feasible and essential.
- Prompt dietary management, as initiated for detected cases, is critical for preventing adverse outcomes.
- The study highlights the importance of targeted screening in high-risk populations for genetic disorders.
Abstract:
The study was conducted on two groups of newborn infants: Group A; a random sample of 3000 infants attending different Health offices in Alexandria for BCG vaccination. Their ages ranged from 5-120 days with a mean age of 39.9 days. Group B; included all the infants born to high risk families attending the clinic of Human Genetics Department, Medical Research Institute (9 infants; 7 with family history of PKU and 2 with family history of congenital hypothyroidism). Their ages ranged from 7 to 60 days with a mean age of 18 days. The newborn infants of the two groups were screened for three treatable inborn errors of metabolism, phenylketonuria "PKU", galactosemia and congenital hypothyroidism with the aim of early detection and therapy to prevent mental retardation. In group A; one baby with transient hyperphenylalaninemia (HPA) (0.33%) and one presumptive case of galactosemia (0.33%) were found. Initial positive results were found in eleven infants they had high levels of thyroid stimulating hormone (TSH). On reevaluation of nine infants of them they were all euthyroids. In Group B, four infants were detected among the infants of PKU families. After confirmation of these results breast feeding was stopped at once and the infants started their dietary management and were kept on it with follow up and periodic evaluation of the adequacy of treatment.
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