Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.

In 30 seconds

This systematic review examined short-chain enoyl-CoA hydratase 1 (SCEH) deficiency in 165 patients with confirmed ECHS1 variants. The study identified neonatal onset as the strongest independent mortality predictor, with a median survival of 28 months for this group (log-rank p = 4.21 × 10⁻¹²).

Key findings

• Dystonia was present in 67.27% and developmental delay in 60.61% of patients.
• Globus pallidus involvement was observed in 62.42% of neuroimaging findings.
• Neonatal onset patients had a median survival of 28 months.
• Neonatal onset was the sole independent mortality predictor (HR 7.41, 95% CI 3.02-18.14, p < 0.001).

Why it matters

Understanding the clinical spectrum and survival predictors of SCEH deficiency can aid clinicians in early diagnosis and management of affected patients, particularly those with unexplained metabolic encephalopathy.