Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency

Clinical Characteristics
Ocular Features: 

The ocular phenotype has not been thoroughly studied.  Nystagmus has been reported in several infants.

Systemic Features: 

Evidence of severe psychomotor retardation is evident at birth or shortly thereafter.  Neonatal hypotonia with a poor suck reflex and episodic apnea is evident.  Spasticity may become evident later.  Brain imaging shows T-weighted hyperintensity areas in the basal ganglia resembling Leigh syndrome lesions.  The corpus callosum appears thin.  Serum and CSF lactate is elevated and decreased activity of the pyruvate dehydrogenase complex is present.

Infants do not achieve normal developmental milestones such as speech or sitting unsupported and several have died early in childhood from cardiorespiratory failure, possibly related to a combined mitochondrial respiratory chain dysfunction.


The transmission pattern in several families is consistent with autosomal recessive inheritance.  Compound heterozygous mutations have been found in the ECHS1 gene (10q26.3).

Treatment Options: 

No treatment has been reported.

Article Title: 


Sakai C, Yamaguchi S, Sasaki M, Miyamoto Y, Matsushima Y, Goto Y. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. Hum Mutat. 2015 Feb;36(2):232-9.

PubMedID: 25393721

Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain. 2014 Nov;137(Pt 11):2903-8.

PubMedID: 25125611