For those of you who may be interested! In an attempt to update information I offer to Families today I had a lenghty discussion with a chap from the Neonatal Screening Department in Brisbane. My intention was for some accurate statistics of the "routinely" tested metabolic disorders in Queensland. Responses of some questions asked..... PKU- 1:12 5000 Hereditary- parents will have PKU or be carriers. 1:4 if a parent has PKU. Congenital hypothryroidism- 1:3 500 Hereditary or occurs naturally no known stats for individual occurrance. Clinical manisfestation of cretinism if newborn affected usually manifest 1-2 wks "may have irreviserable damage by then". Dept tells me they have notified parents by day 7 if NNST performed. Antithyroid drugs may induce congenital hypothyroidism. (? this factor grouped in natural occurance ?? no stats available) Cystic fibrosis- 1:3 000 Purely hereditary "most commonly affects newborns of caucasian desent". Both parents must be carriers if either parent is not affected by CF. No individual stats available for a parent affected or carrier transfer. Galactosaemia- 1:34 000 Hereditary. Females affected are usually infertile. A Woman may be a carrier, both parents must be carriers for a newborn to be affected. Most carriers or peoples affected experience intelluctual impairement (known suffers identifiable). Classical galactosaemia if untreated life expectance 2-3wks usually manifests as sepsis @ 1 week of age if diagnosed and diet modification "not expected to die" but degrees of intelluctual impairement expected also severe hepatic dysfunction and GI problems with life long diet modification. Nil differentiation between B/F and A/F. I am expecting some literature to be posted if anything remarkable will let you know. cheers Katrina -- This mailing list is sponsored by ACE Graphics. Visit <http://www.acegraphics.com.au> to subscribe or unsubscribe.
