MEGDEL syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

MEGDEL syndrome

Synonyms: 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome | 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

MEGDEL syndrome is a rare genetic neurometabolic disorder characterized by neonatal hypoglycemia features of sepsis that are not linked to infection development of feeding problems failure to thrive transient liver dysfunction and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

Newly diagnosed with
MEGDEL syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Cure Mito Foundation

Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.

United Mitochondrial Disease Foundation (UMDF)

Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.


MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.


MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.