Professional
Technical
IVT
β-ketothiolase deficiency
Pronunciation: BAY-tah KEE-toe-THIGH-oh-lace
Mitochondrial acetoacetyl-CoA thiolase deficiency, detected through elevated 2-methylacetoacetyl-CoA and tiglylcarnitine levels.
Full Definition
β-ketothiolase deficiency is an organic acidemia affecting isoleucine catabolism, caused by deficiency of mitochondrial acetoacetyl-CoA thiolase. Patients may present with ketoacidotic episodes during illness or fasting. Newborn screening detects the condition through elevated C5:1 (tiglylcarnitine) levels, though some cases may be missed if collected during asymptomatic periods. Treatment involves protein restriction and avoidance of prolonged fasting.
Usage
Usage note: Use Greek letter β or spell out 'beta'; avoid numeric '2' in formal documentation.
In Context
- "Elevated tiglylcarnitine on screening prompted testing for β-ketothiolase deficiency." — laboratory report
- "β-ketothiolase deficiency may present with episodic ketoacidosis during illness." — clinical description
Also known as
mitochondrial acetoacetyl-CoA thiolase deficiency
MAT deficiency
T2 deficiency
Don't confuse with
3-methylglutaconic aciduria
HMG-CoA lyase deficiency