Gülhan Karakaya Molla, Mehtap Kağnıcı, Ayla Günlemez, Yaşar Yeni, Özlem Ünal Uzun
OBJECTIVES: MEGDHEL [3-methylglutaconic aciduria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh-like disease (L)] syndrome is an autosomal recessive disorder caused by mutations in the serine active site-containing protein 1 ( SERAC1 ) gene. MEGDHEL syndrome is clinically characterized by sensorineural hearing loss, encephalopathy, hepatopathy, 3-methylglutaconic aciduria, and Leigh-like lesions on cranial magnetic resonance imaging. During the neonatal period, it has been reported to present with hypoglycemia, hyperammonemia, impaired liver functions, cholestasis, metabolic acidosis, and sepsis-like clinical findings...
February 23, 2023: Journal of Pediatric Endocrinology & Metabolism: JPEM