Publications by authors named "Madoka Yasukochi"
Radiol Case Rep
December 2024
Article Synopsis
- Short-chain enoyl-CoA hydratase is an important enzyme that helps break down certain fats and amino acids, and not having enough of it can lead to Leigh syndrome, a serious condition.
- A case was reported of a 6-month-old boy who showed symptoms like being sleepy and having trouble breathing, along with signs of severe ketosis, which means his body was producing too many ketones.
- Tests on his brain showed problems, and special genetic tests revealed he had changes in his genes that led to the enzyme deficiency; a diet low in valine might help manage this condition.
