Two cases of MEGDHEL syndrome diagnosed with hyperammonemia

Abstract

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 theneonatal period, it has been reported to present with hypoglycemia, hyperammonemia, impaired liver functions, cholestasis, metabolic acidosis, and sepsis-like clinical findings. However, clinical findings in the neonatal period were reported as a result of the retrospective evaluation of patients diagnosed at an older age. Herein we reported two cases diagnosed as MEGDHEL syndrome during neonatal period in two different clinics with sepsis-like findings, impaired liver functions, and ammonia levels high enough torequire dialysis. One of the cases was born 37weeks of gestation with a birth weight of 2,060g and initially presented with respiratory distress and feeding difficulties. The othercase admitted to the neonatal intensive care unit hadfedproblems together with respiratory distress and circulatory failure within the first 24h after initiation of parenteral nutrition. MEGDHEL syndrome should be suspected in patients with sepsis-like clinical features and hyperammonemia.