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

Ketone body metabolism and its defects

“…They are compound heterozygotes for two mutations in the OXCT1 gene which retain no residual activity in a transient expression analysis of mutant OXCT cDNAs. On the other hand, others do not have permanent ketosis (Fukao et al 2004b(Fukao et al , 2010b. Their urine is usually ketone negative.…”

“…and follows an autosomal recessive mode of inheritance. More than 30 patients have been reported or are known to the authors (Cornblath et al 1971;T i l d o na n d Cornblath 1972; Perez-Cerda et al 1992; Sakazaki et al 1995; Kassovska-Bratinova et al 1996; Pretorius et al 1996; Niezen-Koning et al 1997; Rolland et al 1998;S n y d e r m a n et al 1998;Song et al 1998;Fukao et al 2000Fukao et al , 2004bFukao et al , 2006Fukao et al , 2007aFukao et al , 2010bFukao et al , 2011Baric et al 2001;Berry et al 2001;Longo et al 2004;Yamada et al 2007;Merron and Akhtar 2009; …”

Inborn errors of ketone body utilization

“…Urinary ketone was only positive after a 15 h fast, when blood TKB was <0.5 mmol/L in the older brother and <1 mmol/L in the younger brother. TKB 2 h after eating in both patients decreased to half of the fasting levels …”

“…After 14–15 h of fasting, blood TKB levels exceeded 2 mmol/L and even 2 h after eating, TKB remained at 2 mmol/L, although blood FFA decreased to <0.25 mmol/L after eating. The siblings have not developed severe metabolic acidosis after confirmation of diagnosis …”

Management and communication problems in a patient with succinyl-CoA transferase deficiency in pregnancy and labour

“…Acetoacetyl-CoA cannot be used and is converted back into acetoacetate and other ketone bodies. 12,13 Amino acid metabolism is also impaired leading to tiglylglycine acidaemia as a result of isoleucine breakdown. Management of both conditions involves avoiding triggers for ketone production.…”