Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
Until recently, only 68 cases of CACTD had been reported in the literature. This number increased to 87 with a recent publication by Ryder et al.
How does our comprehension of fatty acid oxidation impact the management of long chain fatty acid oxidation disorder?
Triheptanoin is clinically promising for LCFAOD, although challenges remain in quantifying its effects as a reliable biochemical marker.
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…