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Beta-ketothiolase deficiency

Disease Export to PDF
Name:
Beta-ketothiolase deficiency
Description:
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.
ORPHAcode:
134
Synonyms:
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
ACAT1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14