September 19, 2025

Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants.

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Discussion

Case series analysis of 24 children with ECHS1 gene variants and Leigh syndrome, highlighting diagnostic delays and clinical outcomes.

Children with ECHS1 gene c.489G>A variants show significant diagnostic delays, underscoring the need for clinical awareness.
All 24 children presented with Leigh syndrome, most having mild cases and common symptoms of developmental delay and dystonia.
The Newcastle Paediatric Mitochondrial Disease Scale was used to assess disease severity, reflecting varying degrees of clinical improvement.
Elevated metabolic markers were found in 95% of children, pointing to the importance of metabolic screening in diagnosis.

Liu et al. (2025) studied this question.

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