Triheptanoin dramatically decreased the frequency and severity of rhabdomyolysis in a 6-year-old female patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD), according to a case study published in Neuromuscular Disorders. However, the treatment did not change the progression of retinopathy.
The patient was diagnosed with LCHADD, a type of long-chain fatty acid oxidation disorder (LCFAOD), at the age of 4 months. Treatment included fat restriction, frequent feeding, and medium-chain triglyceride supplementation.
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Despite this, she had around 8 rhabdomyolysis episodes per year, and at 6 years of age, she experienced 13 episodes in 6 months. Treatment with triheptanoin was started at this point as part of a compassionate use program.
This led to a decrease in hospitalization from 73 days to 11 days in the first year after treatment initiation, during which she had only 3 rhabdomyolysis episodes.
“Our findings support the view that triheptanoin can drastically ameliorate rhabdomyolysis and achieve better metabolic control in LCHADD,” the authors concluded, “but possible benefits on long-term complications such as retinopathy remain unproven.”
LCHADD is 1 of 6 forms of LCFAOD, a group of genetic diseases characterized by the inability of the body to break down long-chain fatty acids to generate energy. This leads to symptoms such as rhabdomyolysis, hypotonia, muscle weakness, and exercise intolerance.
LCHADD is caused by a mutation in the HADHA gene, which contains the information necessary to make the alpha subunits of the mitochondrial trifunctional protein enzyme complex. The role of this enzyme complex is to carry out 3 of the 4 steps of beta-oxidation. The mutation disrupts the function of the whole enzyme complex and leads to long-chain fatty acid accumulation and energy deficiency.
Triheptanoin, sold under the brand name Dojolvi®, consists of 3 odd-chain 7-carbon-long fatty acids (heptanoate) to provide a source of calories to patients affected by LCFAOD.
Reference
Kahraman AB, Yıldız Y, Gökmen-Özel H, et al. Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. Neuromuscul Disord. Published online February 19, 2023. doi:10.1016/j.nmd.2023.02.008
