Table 2.

Common Clinical Manifestations of ECHS1 Deficiency

Clinical ManifestationFrequency
Neurologic 1 Signal abnormalities in the basal ganglia28/32 (88%)
Developmental delay27/32 (84%)
Hypotonia21/30 (70%)
Dystonia15/29 (52%)
Seizures12/23 (52%)
Encephalopathy12/31 (39%)
Ataxia/choreoathetosis5/25 (20%)
Growth Failure to thrive20/32 (62%)
Microcephaly7/30 (23%)
Intrauterine growth restriction5/27 (18%)
Cardiovascular Cardiomyopathy9/15 (60%)
Pulmonary hypertension3/14 (21%)
Ophthalmologic Nystagmus10/31 (32%)
Optic atrophy8/27 (30%)
Corneal clouding1/27 (4%)
Other Sensorineural hearing loss13/27 (48%)
Apnea7/37 (19%)
Liver steatosis &/or hepatomegaly5/6 (83%)
Biochemical/
Enzymatic 		Lactic acidemia27/36 (75%)
Low PDC activity (in cultured fibroblasts)5/12 (42%)
1.

Neurologic manifestations were seen in all 40 individuals reported [Ganetzky et al 2016, Nair et al 2016, Fitzsimons et al 2018].

From: Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency

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