Galactosemia - Genetic Disorders FAQs

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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Question
Hello, my wife is 7 weeks pregnant now , we are expecting our newborn %50 will have congenital cataract due to galactokinase deficiency or even galactose 1 phosphate uridil transferase deficiency ( as my wife and all her sisters born with the same congenital disease ), i got all these information as I am medical student and now comes the important question , is there any way we can avoid having baby with congenital cataract? If there is any pediatrician that can help with advice will be great? should i ask my wife not to ingest any milk or milk product as she is doing this now regularly as a good source of calcium? We will visit the obst. on 9th of may, should i ask him to refer me to biomedical specialist? I am very concerned about this because this will be my son or my daughter and i am looking for better life for him or her , so please if there is any specialist that can help with advice or with referring me to someone that can help that will be great favor to do, we live in southern california in san diego area.
Answer
Galactosemia is an autosomal recessive condition. Since your wife has galactosemia and if you are not a carrier of the abnormal gene then chances in next child is rare. However if you are a carrier then chances of your child being affected is 50%. Prenatal diagnosis is possible for pregnancies at risk for classic (G/G) galactosemia using both GALT enzyme activity and molecular genetic testing if the disease-causing GALT mutations in the family are known. Restriction of milk in mother does not seem to have any added advantage to prevent the severity of disease in affected fetus. You may contact the following groups for advise and support: Galactosemia Support Group 31 Cotysmore Sutton Coldfield West Midlands B75 6BJ United Kingdom Phone: (+44) 0121 378 5143 Association for Neuro-Metabolic Disorders (ANMD) PO Box 0202/L3220 1500 Medical Center Drive Ann Arbor MI 48109-0202 Phone: 313-763-4697 Fax: 313-764-7502 Also you may contact DR Elsas LJ at Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322. Back to All Questions

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