Fatty-acid Metabolism Disorder - Diagnosis

Diagnosis

Diagnosis of Fatty-acid metabolism disorder requires extensive lab testing. There are many labs that can be used for testing and diagnosing Fatty-acid metabolism disorders. E.g. http://genes-r-us.uthscsa.edu/parentpage.htm.uthscsa.edu/parentpage.htm

Normally, in cases of hypoglycaemia, triglycerides and fatty acids are metabolised to provide glucose/energy. However, in this process, ketones are also produced and ketotic hypoglycaemia is expected. However, in cases where fatty acid metabolism is impaired, a non-ketotic hypoglycaemia may be the result, due to a break in the metabolic pathways for fatty-acid metabolism.

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