• Gas chromatography reveals rare disease
    The disease is exceptionally rare

GC, MDGC

Gas chromatography reveals rare disease

Apr 10 2010

Gas chromatography techniques were vital in diagnosing a rare condition in a woman from Louisiana, according to one expert.

Dr Michael Steppie was in residency at a clinic in the state when he examined a female regarding a cyst on her elbow, the Orlando Sentinel reports.

Tina Ancar, who was 27 at the time, approached the medical professional in an effort to get the growth removed, but further investigations revealed more of the bumps.

Using urine gas chromatography, which involved placing the liquid on dry ice for analysis, cerebrotendinous xanthomatosis was diagnosed.

With only 100 cases reported in the US, the news provider noted, it is considered an extremely exceptional illness.

Ms Ancar took part in a drug study to obtain experimental treatment for the disease and was eventually cured.

The case is currently being shown on Discovery Health Channel's Mystery Diagnosis programme.

According to the United Leukodystrophy Foundation, the symptoms of the disease include cataracts and depression.

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