Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause
incorrect communication between the nerves and muscles. The specific causes of NMDs are …

ECHS1 gene mutations are known to cause mitochondrial short-chain enoyl-CoA hydratase
1 deficiency, a neurodegenerative disorder characterized by psychomotor development …

Background and purpose HIBCH and ECHS1 genes encode two enzymes implicated in the
critical steps of valine catabolism, 3‐hydroxyisobutyryl‐coenzyme A (CoA) hydrolase …

PathIN is a web-service that provides an easy and flexible way for rapidly creating pathway-
based networks at several functional biological levels: genes, compounds and reactions …

Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare
autosomal recessive disorder of valine catabolism. Patients usually present with …

Abstract Background Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial
enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the …

Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive
myopathy due to biallelic pathogenic variants in ATP2A1, encoding the sarcoplasmic …

Leigh syndrome (LS), the most common mitochondrial disease in early childhood, usually
manifests variable neurodegenerative symptoms and typical brain magnetic resonance …

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 …

Background Short-chain enoyl-CoA hydratase (ECHS1) deficiency is a rare metabolic
disorder. Concerned patients present with Leigh syndrome symptoms or a Leigh-like …