3-hydroxy-3-methylglutaric aciduria

Get in touch with RARE Concierge.

Contact RARE Concierge

3-hydroxy-3-methylglutaric aciduria

Synonyms: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMG-CoA lyase deficiency | Hydroxymethylglutaric aciduria

A rare organic aciduria due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.

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://www.orphadata.org. Data version March 2024

Newly diagnosed with
3-hydroxy-3-methylglutaric aciduria?

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

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).

MitoAction

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.

Clinical Trials

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