Carnitine Palitoyl Transferase Deficiency Type II

Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
A Fatty-acid Oxidation Disorder

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What is it?
Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II) is a disorder in which the body cannot oxidize fatty acids

Inheritance and Frequency
The gene defect for CPT-II 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
CPT-II affects males more than females and is more apparent in people with diabetes or malnutrition. Fasting may trigger symptoms. It usually becomes apparent in adults, but a more serious form affects children. The major symptoms of CPT-II are myalgia, fatigue, and reddish-brown urine.

Long Term Effects

Treatment
Treatment includes a diet low in proteins and fats and high in carbohydrates, adequate hydration, avoidance of fasting, and keeping warm. Carnitine supplementation may be effective.

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
Email: deb@fodsupport.org

James William Lazzaro Foundation
4493 Liberty Road
South Euclid, OH 44121
Contact Person: Jamie Lazzaro
Phone: (502) 254-2209
Email: info@jwlsite.com

United Mitochondrial Disease Foundation
P.O. Box 1151
Monroeville, PA 15146-1151o@umdf.org
Phone: (412) 793-8077
Email: info@umdf.org

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Revised 7/29/2006