Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation
British Medical Journal (Clinical Research Ed.)
|February 8, 1986
Insights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects 3.1% of boys and 1.6% of girls in Malaysia. Screening is recommended due to its common occurrence and link to severe jaundice, preventing kernicterus.
Area of Science:
- Medical Genetics
- Neonatal Care
- Public Health
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder.
- Neonatal jaundice is a significant concern, potentially leading to kernicterus and long-term neurological damage.
- Certain ethnic groups in Malaysia have a higher prevalence of G6PD deficiency.
Purpose of the Study:
- To determine the incidence of G6PD deficiency in newborns in Malaysia.
- To assess the association between G6PD deficiency and severe neonatal jaundice requiring exchange transfusion.
- To evaluate the effectiveness of parental counseling in preventing kernicterus.
Main Methods:
- Screening of cord blood samples from 27,879 newborns over two years for G6PD deficiency.
- Monitoring of infants for severe jaundice (bilirubin > 380 mmol/l) and need for exchange transfusion.
- Providing written and verbal instructions to parents regarding substances to avoid.
Main Results:
- The overall incidence of G6PD deficiency was 3.1% in boys and 1.6% in girls.
- Sixty-nine infants experienced severe jaundice requiring exchange transfusion.
- Parental counseling successfully reduced the incidence of kernicterus.
Conclusions:
- G6PD deficiency is prevalent across Malay, Chinese, and Indian ethnic groups in Malaysia.
- Newborn screening for G6PD deficiency is recommended in Malaysia.
- Preventive measures, including parental education, can mitigate the risks associated with G6PD deficiency and jaundice.
Abstract:
Over two years cord blood from 27 879 babies was screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The overall incidence was 3.1% in boys and 1.6% in girls. Sixty nine babies had severe jaundice (bilirubin concentration greater than 380 mmol/l (20 mg/100 ml], and exchange transfusion was performed. Parents were given written and verbal instructions to avoid herbs and drugs that trigger kernicterus, which reduced the incidence of kernicterus and thereby prevented mental retardation. G6PD deficiency is common in all three ethnic groups (Malays, Chinese, and Indians) in Malaysia and screening is recommended.
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