Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

https://t.co/DV9fdxq4fE "We also restricted animal protein intake and provided a low-fat diet that was particularly low in dairy fat."

https://t.co/DV9fdxq4fE "A valine-restricted and total fat-restricted diet was considered as a therapeutic option after the genetic diagnosis." "An available formula that restricted branched-chain amino acids and especially restricted valine was used."

https://t.co/DV9fdxq4fE "Herein, we report a case of a male with ECHS1 deficiency who was diagnosed at 8 years of age." "He presented severe dystonia, hyperlordosis, moderate to severe kyphoscoliosis, great difficulty in walking, and severe dysarthria."

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency #MECFS #LongCovid https://t.co/DV9fdxq4fE