MEGDHEL syndrome

Genetics

• This is caused by mutations in the SERAC 1 gene
• The gene is involved in the metabolism of complex lipids
• The transmission is autosomal recessive
• The median onset age is 6 months
• The mutations are also associated with complicated hereditary spastic paraplegia (cHSP)

Clinical features

Magnetic resonance imaging (MRI) brain

Blood tests

Urinalysis

Acronym

Synonym

References

1. Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol 2017; 82:1004-1015.
2. Wortmann S, Rodenburg RJ, Huizing M, et al. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab 2006; 88:47-52.
3. Lumish HS, Yang Y, Xia F, Wilson A, Chung WK. The expanding MEGDEL phenotype: optic nerve atrophy, microcephaly, and myoclonic epilepsy in a child with SERAC1 mutations. JIMD Rep 2014; 16:75-79.
4. Roeben B, Schüle R, Ruf S, et al. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet 2018; 55:39-47.
5. Giron C, Roze E, Degos B, et al. Adult-onset generalized dystonia as the main manifestation of MEGDEL syndrome. Tremor Other Hyperkinet Mov (N Y) 2018; 8:554.
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Related checklists

• Leigh syndrome: clinical features
• Leigh syndrome: management