LCFAOD Insights

LCFAOD Differential Diagnosis

Current Approaches to Treating Long Chain Fatty Acid Oxidation Disorder

Long chain fatty acid oxidation disorder (LCFAOD) is a rare and life-threatening disease that is inherited in an autosomal recessive manner. It impairs the body’s production of energy, which leads to chronic energy insufficiency and injury to the organs that depend on it. Although LCFAOD is screened for in newborns, current management strategies still too…

PAH experimental therapies

Carrier Screening for Autosomal Recessive and X-Linked Conditions

Medicine as it is understood today is an umbrella term that covers the detection, diagnosis, management, and prevention of disease. It is, rightly so, akin to a broad kitchen in which there can never be too many cooks. As physicians debate how best to treat genetic rare diseases, (such as Duchenne muscular dystrophy, spinal muscular…

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