AI 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.
Article Abstract
Short-chain enoyl-CoA hydratase, encoded by plays a major role in the valine catabolic pathway and mitochondrial fatty acid β-oxidation. Deficiency of this enzyme causes Leigh syndrome. Herein, we report a case of -related Leigh syndrome with a prominent ketone body spectrum on magnetic resonance spectroscopy during acute exacerbation. A 6-month-old boy with mild motor developmental delay presented with disturbances of consciousness and hypercapnia without prior infection or feeding failure. Upon admission, investigations revealed prominent ketosis and elevated 2,3-dihydroxy-2-methylbutyric acid excretion. Brain magnetic resonance imaging revealed symmetrical T2 prolongation with restricted diffusion in the basal ganglia. Magnetic resonance spectroscopy showed a prominent ketone body spectrum in the cerebral white matter, and prominent ketone bodies, elevated lactate and markedly decreased N-acetylaspartate levels in the basal ganglia. Genetic analysis identified compound heterozygous variants of . Short-chain enoyl-CoA hydratase deficiency is a disease for which a valine-restricted diet is reported to be beneficial, and early diagnosis is desirable. Severe ketosis and the ketone body magnetic resonance spectroscopy spectrum during acute exacerbation may aid in the diagnosis of this disease.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11461927 | PMC |
| http://dx.doi.org/10.1016/j.radcr.2024.08.164 | DOI Listing |
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