As a bit of a follow up to the last post about genetic screening, I thought this article by Dr. Benjamin Glaser might be a good addition. Here is an exerpt: Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. [...]
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Carriers of a genetic mutation caused by the ABCC8 gene which can result in children with congenital hyperinsulinism (HI), can now be tested at fertility clinics in many locations around the country through a simple saliva test. The test, made by a California company, Counsyl, actually screens for 100 different rare disorders including HI. An [...]
This is an exerpt from a new textbook for diagnostics aimed at pediatricians. This section is co-written by Dr. Vaneeta Bamba and Dr. Diva D. De León-Crutchlow. De León-Crutchlow was asked to be on our Scientific Advisory Group. This is a nice complement to the article by Glaser posted by Andie. http://www.wrongdiagnosis.com/h/hypoglycemia/book-diseases-20a.htm Find The 5-Minute Pediatric Consult [...]
