Article
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.
Human mutation - 1 Jan 1995
Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell G A, Lee G W, Hashimoto T
Abstract excerpt
The molecular basis of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency was studied in two patients (GK11 and GK16). Fibroblasts from each patient had detectable immunoreactive T2 polypeptide (CRM). In pulse-chase experiments, fibroblasts from GK11 had two types of CRM: one (type I CRM) disappeared after a 24-hr chase and migrated more slowly than that of the normal control; the other (type II CRM) was...
Topics
- Acetyl-CoA C-Acetyltransferase
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Cells, Cultured
- Child
- DNA Primers
- DNA, Complementary
- Female
- Fibroblasts
- Humans
- Infant