Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: Two pathogenic mutations, V133E and C456F, in Japanese siblings

Patients Homozygous for the T435N Mutation of Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Do Not Show Permanent Ketosis

“…The latter indicated that meals were sufficient to suppress lipolysis. Because the blood level of ketone bodies varies according to age, we compared the results of GS09b (8 y of age) with those of GS02 (9 y of age) and GS02s (7 y of age), who have permanent ketosis (7,8,16). The normal range of TKB at their ages was reported to be Ͻ0.1-0.5 mM (mean, 0.2) at 15-h fasts (21).…”

“…Total fibroblast RNA was purified with an ISOGEN kit (Nippon Gene, Tokyo, Japan). RT-PCR was as described (16).…”

“…Enzyme assays of SCOT activity are sufficient for clinical diagnosis but current wholecell assays can yield a spuriously high apparent residual activity (14 -16). To assist clinical diagnosis, we cloned a human SCOT cDNA (14) and SCOT gene (12), developed an anti-[human SCOT] antibody (15), and have described six mutations in SCOT-deficient patients (12,14,16).…”

Liver-Specific Silencing of the Human Gene Encoding Succinyl-CoA: 3-Ketoacid CoA Transferase

“…The SCOT activity in HepG2 could be regarded as a background activity since the level was similar to that of SCOT-null fibroblasts (KassovskaBratinova et al 1996;Song et al 1998;Fukao et al 2000). The ratios of SCOT activity to acetoacetyl-CoA thiolase activity in the presence of potassium ion were 0.44, 0.46, 0.40, and 0.023, in HeLa, Hle, Chang liver, and HepG2 cell lines, respectively.…”

“…Hereditary SCOT deficiency is one cause of ketoacidosis and, typically, elevated serum levels of ketone bodies are present, even when the patient is well nourished and not acutely ill. Molecular analyses have been reported in some SCOT deficient patients (Kassovska-Bratinova et al 1996;Song et al 1998;Fukao et al 2000).…”