Hypermethioninemia
An Amino Acid Disorder
What is it?
Inheritance and Frequency
The gene defect for Hypermethioninemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.
Signs & Symptoms
Long Term Effects
Treatment
History
Screening For
Visit the "What Does Your State Screen For Page" to find out what your state screens for in its newborn screening test.
Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide the screening for this to you no matter what state you live in. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.
Other Sites of Reference
Support Groups
National Coalition for PKU & Allied Disorders
P.O. Box 1244
Mansfield, MA 02048
Contact Person: Trish Mullaley
Phone: (877) 996-2723
E-mail: coalition4pkuad@aol.com
HOME | ABOUT US | PRESS RELEASES | DONATE NOW | VOLUNTEER NOW
Contact
Save Babies Through Screening
for questions about the content of this site or
the Webmaster
for questions about technical issues related to this site.
Terms of use
for this site.