Dr. Muge Gucsavas Calikoglu, a Turkish medical geneticist, was featured on “Mystery Diagnosis”

Dr Muge Gucsavas Calikoglu, an associate professor of pediatrics working in the Division of Genetics and Metabolism at the University of North Carolina (UNC), was featured on the national TV show “Mystery Diagnosis” on the Discovery Health Channel. The patient was a 17 year old female high school student with severe leg cramps and dehydration of unknown cause. "She had episodes of muscle breakdown, especially after playing soccer, and the first episode they thought it was a heat stroke. The second time around they thought it was unusual." Dr. Calikoglu said in an interview with The Herald-Sun based in Durham, NC.

In the third episode she was transferred to the genetics clinic in UNC and Dr Calikoglu diagnosed the problem: carnitine palmitoyltransferase 2 deficiency, a rare autosomal recessive genetic disorder that can be severely debilitating in young adults. Because of the enzyme deficiency, an enzyme important in breaking down fats (long chain fatty acids to be precise), enough energy is not generated for the muscles of the patient and muscle breakdown occurs. When questioned about the prognosis of the patient, Dr Calikoglu told the Herald Sun that ‘She has fully recovered from the attack, although now she has to make changes in her diet and her activity levels". On a question whether the patient will resume a normal lifestyle she answered that "Our goal is to do that, yes, and our goal is to prevent further muscle breakdown episodes so that she can lead a fairly normal life"

We congratulate Dr. Muge Gucsavas Calikoglu, a 1983 graduate of Ankara University Faculty of Medicine, for her shrewd diagnosis, which had enormous beneficial impact on the patient and for the recognition of her excellent clinical work in the U.S media.