Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency
| Autor: | Melanie Brandabur, Dorcas Koenigsberger, Kristin Engelstad, Susan Brodlie, Erin Stackowtiz, Rachel Salazar, Darryl C. De Vivo |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty education Neurosciences. Biological psychiatry. Neuropsychiatry Brief Communication Short chain enoyl-CoA hydratase 03 medical and health sciences chemistry.chemical_compound Neurological assessment 0302 clinical medicine Medicine Effective treatment Humans Adverse effect RC346-429 Child Enoyl-CoA Hydratase Triglycerides Early onset Urine chemistry business.industry General Neuroscience Brain Diseases Metabolic Inborn Triheptanoin 030104 developmental biology chemistry Physical exam Female Neurology (clinical) Neurology. Diseases of the nervous system business Brief Communications 030217 neurology & neurosurgery RC321-571 |
| Zdroj: | Annals of Clinical and Translational Neurology Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1151-1157 (2021) |
| ISSN: | 2328-9503 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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