Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

• Published in: Neuromuscular disorders : NMD Vol. 33; no. 4; pp. 315 - 318
• Main Authors: Kahraman, Ayca Burcu, Yildiz, Yılmaz, Gokmen-Ozel, Hulya, Kadayifcilar, Sibel, Sivri, Serap
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01-04-2023
• Subjects: 3-Hydroxyacyl CoA Dehydrogenases - metabolism; Child; Coenzyme A; Fatty acid oxidation disorders; Female; Humans; Infant; Lipid Metabolism, Inborn Errors - complications; Lipid Metabolism, Inborn Errors - diagnosis; Lipid Metabolism, Inborn Errors - drug therapy; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Multisystem inflammatory syndrome in children (MISC); Oxidation-Reduction; Retinopathy; Rhabdomyolysis; Rhabdomyolysis - drug therapy; Triglycerides - therapeutic use; Triheptanoin; Triheptanoin; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Fatty acid oxidation disorders; Retinopathy; Rhabdomyolysis; Multisystem inflammatory syndrome in children (MISC)
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2023.02.008

•There are patients with early-onset LCHAD deficiency with poor metabolic control despite standard therapy.•The frequency and severity of rhabomyolysis was decreased dramatically with triheptanoin in the presented case.•The effect of triheptanoin on LCHADD-retinopathy needs to be monitored.
Early-onset long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is a fatty acid β-oxidation disorder with a poor prognosis. Triheptanoin, an anaplerotic oil with odd-chain fatty acids can improve the disease course. The female patient presented here was diagnosed at the age of 4 months, and treatment was started as fat restriction, frequent feeding, and standard medium-chain triglyceride supplementation. In follow-up, she had frequent rhabdomyolysis episodes (∼8 per year). At the age of six, she had 13 episodes in 6 months, and triheptanoin was started as part of a compassionate use program. Following unrelated hospital stays due to multisystem inflammatory syndrome in children and a bloodstream infection, she had only 3 rhabdomyolysis episodes, and hospitalized days decreased from 73 to 11 during her first year with triheptanoin. Triheptanoin drastically decreased the frequency and severity of rhabdomyolysis, but progression of retinopathy was not altered.