Carnitine
Acylcarnitine
Translocase Deficiency
A Fatty-acid Oxidation Disorder
What is it?
Inheritance and Frequency
The gene defect for Carnitine Acylcarnitine Translocase Deficiency 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
FOD Family Support Group
805 Montrose Drive
Greensboro, NC 24710
Contact Person: Deb Lee Gould
Phone: (336) 547-8682
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