Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Galactosemia primary prevention
Introduction
Overview
Overview
Preventive strategies of galactosemia are primarily aimed at early detection through screening and prompt intervention.
Primary Prevention
Primary Prevention
Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. A single allele inherited from any one parent is not sufficient to cause the condition. Offspring born to parents who are both carriers run a 25% risk of contracting the disease[1]. Due to the strong genetic basis of the disease, primary prevention is not widely adopted for galactosemia. However, consanguineous marriages have been shown to increase the risk of the disorder and should be avoided and prompt screening done for those with a positive family history or high risk[2].
References
References
- ↑ HUGH-JONES K, NEWCOMB AL, HSIA DY (1960). “The genetic mechanism of galactosaemia”. Arch Dis Child. 35: 521–8. doi:10.1136/adc.35.184.521. PMC 2012648. PMID 13716617.
- ↑ Senemar S, Ganjekarimi A, Senemar S, Tarami B, Bazrgar M (2011). “The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran”. Iran J Public Health. 40 (4): 99–104. PMC 3481732. PMID 23113108.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]