OHSU

Melanie Gillingham, PhD

12/30/2009 - Since October 2003, approximately 80 Alaska Native infants have been identified with carnitine palmitoyltransferase 1A (CPT1A) deficiency; previously only 30 published cases were known worldwide.

Dr. Gillingham

Since October 2003, approximately 80 Alaska Native infants have been identified with carnitine palmitoyltransferase 1A (CPT1A) deficiency; previously only 30 published cases were known worldwide.

A child with CPT1A deficiency is unable to metabolize stored fat efficiently enough to nourish the brain and nervous system. When no ingested food is available – such as during a bout of stomach flu or similar episodes of involuntary fasting – the child is in danger of losing consciousness, damaging the brain or nervous system, and even dying. The condition is caused by a genetic mutation that hinders this crucial liver enzyme's ability to perform its usual fat-oxidation duty. The version identified in Alaska differs from the "classic" deficiency; it reduces the enzyme's activity to about 20 percent of normal, rather than practically zero.  

While the importance of researching this population is clear, the process is daunting. Dr. Melanie Gillingham, PhD, Assistant Professor in the Department of Molecular & Medical Genetics, decided the best approach was to bring the children and families to OHSU. Dr. Gillingham was awarded $30,000 in pilot project funding from the Oregon Clinical and Translational Research Institute (OCTRI). OCTRI also provides support for pediatric nurses.

Dr. Gillingham's first family arrived in spring 2009. The "arrival" proved nearly as challenging as the science. Most affected families live in very remote areas in Alaska. Dr. Gillingham became an authority on small prop plane services and their weekly schedules at village landing strips, as well as Anchorage hotels, to put up families until their flight to Oregon.  

The science requires keeping a three-year-old from eating for 18 hours (with appropriate safety precautions). Dr. Gillingham brings in entire families not just because an older sibling makes a great "control group" (for non-invasive scans of liver fat), but also because family members are an essential part of the team that distracts the child as the hours of fasting wear on. This clinical work includes the medical supervision of David Koeller, MD, Professor, Department of Pediatrics.

Dr. Gillingham intends for this study and its pilot grant to catalyze broader studies funded by tribal, state, national and/or international entities, and a registry of affected children. This will involve a collaborative effort with tribal elders, doctors and the State Health Department. In fact, the State Health Department has already created an educational video featuring Dr. Koeller to distribute to families and providers. "But the first entity you have to report to is the tribe," explained Dr. Gillingham. "We'll work with them to get word out to the population."