We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties, for 37 months. Blood and urine chemistry safety measures, motor skills assessment, physical exam, and neurological assessment were monitored over a 27 month period. Modest sustained gains in motor skills, attention, muscle bulk, and strength were observed without any significant adverse effects. Triheptanoin appears to be a promising effective treatment for SCEH Deficiency.
Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency is a phenotypically heterogeneous disorder ranging from an early onset severe progressive Leigh‐Like Syndrome with early demise1, 2 to later onset childhood movement disorders.3, 4 Early onset symptoms include hypotonia, respiratory insufficiency, global developmental delay, encephalopathy, sensorineural hearing loss, cardiomyopathy, and bilateral basal ganglia lesions.5 Less common are the later onset mildly symptomatic patients with varied movement disorders and basal ganglia lesions.4–6 Intermediate phenotypes also have been reported.5, 7 Median life expectancy is approximately 2 years.8 Last reported age of 24 early onset patients, alive at time of the report, was 104.8 + 95 months (range 8–372 months). Lactate values (blood, CSF, and brain magnetic resonance spectroscopy) in severe cases are elevated, and pyruvate values may be elevated or normal.5 In contrast, intermediate and mild cases usually have normal laboratory values. A review of the literature1–4, 6–29 revealed 67 patients with most suffering the early onset presentation. Average age at death was 28.0 + 43.8 months (range 16 h to 156 months) for 27 early onset patients (age <12 months) for whom age at death was reported.