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Summary
METABOLIC ENCEPHALOPATHY (EPEMA)
EPEMA SYNDROME
602473
OMIM = Online Medalian Inheritance of Men
19q13.32
very rare (30 cases) autosomal recessive mutations in ETHE1 gene
symptoms
encephalopathy
failure to thrive
hearing defect, deafness
myelopathy
ophthalmoplegia
progressive neurologic defect
seizures
laboratory finding
Literature
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Gauthier-Villars Met al.Respiratory chain deficiency in Alpers syndromeNeuropediatrics320150-1522001
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996