Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

Abstract excerpt

3-Ketothiolase deficiency (3KTD) stems from a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase (T2). We analyzed the molecular basis of 3KTD in two generations of a family. A boy (patient 2, GK04), his father (patient 1, GK05), his mother, and his brother were studied; three mutant all...

Topics

• Acetyl-CoA C-Acetyltransferase
• Acetyl-CoA C-Acyltransferase
• Adult
• Alleles
• Base Sequence
• Child
• Child, Preschool
• Female
• Humans
• Introns
• Male
• Mitochondria