Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
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Gülhan Karakaya Molla
Abstract
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. 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 to require dialysis.
Case presentation
One of the cases was born 37 weeks of gestation with a birth weight of 2,060 g and initially presented with respiratory distress and feeding difficulties. The other case admitted to the neonatal intensive care unit had fed problems together with respiratory distress and circulatory failure within the first 24 h after initiation of parenteral nutrition.
Conclusions
MEGDHEL syndrome should be suspected in patients with sepsis-like clinical features and hyperammonemia.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: Not applicable.
References
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- Frontmatter
- Review
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents
- Original Articles
- Safety and user experience with off-label use of a flash glucose monitor (FreeStyle Libre® 1) among very young children with type 1 diabetes mellitus
- Sonic hedgehog N-terminal level correlates with adiponectin level and insulin resistance in adolescents
- Elevated amylase and lipase levels in patients with DKA followed in the pediatric intensive care unit
- The relationship between alexithymia, health literacy, and diet quality in obese adolescents
- The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome
- Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
- Comparative characteristics of developing morphofunctional features of schoolchildren from different climatic and geographical regions
- Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis
- Outcomes of children with severe diabetic ketoacidosis managed outside of a pediatric intensive care unit
- Thiamine status during treatment of diabetic ketoacidosis in children – tertiary care centre experience
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