Beta-ketothiolase deficiency

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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 Data version May 2024

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Beta-ketothiolase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.


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.