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GTR Home > Conditions/Phenotypes > Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

Synonyms
PxMD-ECHS1

Summary

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms. Those with presentation in the neonatal period typically have severe hypotonia, encephalopathy, or neonatal seizures within the first few days of life. Signs and symptoms typically progress quickly and the affected individual ultimately succumbs to central apnea or arrhythmia. A second group of affected individuals present in infancy with developmental regression resulting in severe developmental delay. A third group of affected individuals have normal development with isolated paroxysmal dystonia that may be exacerbated by illness or exertion. Across all three groups, T2 hyperintensity in the basal ganglia is very common, and may affect any part of the basal ganglia. [from GeneReviews]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ECHS1D, SCEH, mECH, mECH1, ECHS1
    Summary: enoyl-CoA hydratase, short chain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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