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| SPECIALIST ANSWERS
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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 defeiency or even galactose 1 phosphate uridil transferase defeciency ( as my wife and all her sisters born with the same congenital disease ), i got all these information as iam medical student and now comes the important question , is there any way we can avoid having babe with congenital cataract ?? if there is any peditritian 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. at the 9th of may , should i ask him to refer me to biomedical specialist ? iam 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 refering me to someone that can help that will be great favor to do , we live in southern california in san diego area .
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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.
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