Beta-ketothiolase deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Beta-ketothiolase deficiency

Synonyms: 3-ketothiolase deficiency | 3-oxothiolase deficiency | Alpha methylacetoacetic aciduria | Alpha-methyl-acetoacetyl-CoA thiolase deficiency | Mitochondrial acetoacetyl-coenzyme A thiolase deficiency | T2 deficiency

A rare genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting dyspnea tachypnoea hypotonia lethargy and coma with an onset during infancy and usually ceasing by adolescence.

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 October 2023.

Newly diagnosed with
Beta-ketothiolase deficiency?

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

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.

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.