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Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency. 2021

Kristin Engelstad, and Rachel Salazar, and Dorcas Koenigsberger, and Erin Stackowtiz, and Susan Brodlie, and Melanie Brandabur, and Darryl C De Vivo
Department of Neurology, Columbia University Irving Medical Center, New York City, New York, USA.

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.

UI MeSH Term Description Entries
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004746 Enoyl-CoA Hydratase An enzyme that catalyzes reversibly the hydration of unsaturated fatty acyl-CoA to yield beta-hydroxyacyl-CoA. It plays a role in the oxidation of fatty acids and in mitochondrial fatty acid synthesis, has broad specificity, and is most active with crotonyl-CoA. EC 4.2.1.17. 3-Hydroxyacyl CoA Hydrolyases,3-Hydroxyacyl Dehydratases,Crotonase,Enoyl Hydrase,beta-Hydroxyacyl Dehydratases,Enoyl CoA Hydratases,beta-Hydroxyacyl-CoA Dehydrases,trans-2-Enoyl-Coenzyme A Hydratase,3 Hydroxyacyl CoA Hydrolyases,3 Hydroxyacyl Dehydratases,CoA Hydratases, Enoyl,CoA Hydrolyases, 3-Hydroxyacyl,Dehydrases, beta-Hydroxyacyl-CoA,Dehydratases, 3-Hydroxyacyl,Dehydratases, beta-Hydroxyacyl,Enoyl CoA Hydratase,Hydrase, Enoyl,Hydratase, Enoyl-CoA,Hydratase, trans-2-Enoyl-Coenzyme A,Hydratases, Enoyl CoA,Hydrolyases, 3-Hydroxyacyl CoA,beta Hydroxyacyl CoA Dehydrases,beta Hydroxyacyl Dehydratases,trans 2 Enoyl Coenzyme A Hydratase
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014280 Triglycerides An ester formed from GLYCEROL and three fatty acid groups. Triacylglycerol,Triacylglycerols,Triglyceride
D020739 Brain Diseases, Metabolic, Inborn Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. Central Nervous System Inborn Metabolic Diseases,Familial Metabolic Brain Diseases,Inborn Errors of Metabolism, Brain,Metabolic Diseases, Inborn, Brain,Brain Diseases, Metabolic, Familial,Brain Diseases, Metabolic, Inherited,Brain Syndrome, Metabolic, Inborn,CNS Metabolic Disorders, Inborn,Central Nervous System Inborn Metabolic Disorders,Encephalopathies, Metabolic, Inborn,Familial Metabolic Disorders, Brain,Inborn Metabolic Brain Diseases,Inborn Metabolic Brain Disorders,Inborn Metabolic Disorders, Brain,Inherited Metabolic Brain Diseases,Inherited Metabolic Disorders, Brain,Metabolic Brain Diseases, Familial,Metabolic Brain Diseases, Inborn,Metabolic Brain Diseases, Inherited,Metabolic Brain Syndrome, Inborn,Metabolic Diseases, Inborn, Central Nervous System,Metabolic Disorders, Brain, Inherited,Metabolic Disorders, CNS, Inborn,Metabolic Disorders, Familial, Brain

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