Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency

Successful long‐term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation

“…The CPT1A mRNA transcript is composed of 19 exons with one untranslated exon (exon 1), and the corresponding protein is composed of 772 amino acids. Pathogenic mutations have been described previously (Brown et al 2001;Gobin et al 2002;Ijlst et al 1998;Ogawa et al 2002;Prasad et al 2001;Prip-Buus et al 2001). Our patient was homozygous for a C-to-T mutation at nucleotide 986 in exon 9, which changed a threonine to isoleucine.…”

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

“…A recent study revealed the molecular defect in several CPT1-A-deficient patients belonging to an extended inbred Hutterite kindred, namely a homozygous 2129G > A transition predicting a G710D substitution Prasad et al, 2001). To date, 24 mutations of the CPT1-A gene have been reported (Ijlst et al, 1998;Prip-Buus et al, 2001;Brown et al, 2001;Gobin et al, 2002Gobin et al, , 2003Ogawa et al, 2002;Bennett et al, 2004). , and one is a 8-kb deletion encompassing intron 14 to exon 17 of the gene.…”

Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus

“…Although about 30 mutations of CPT1A have been described [16][17][18][19][20], as far as we are aware, our results constitute the first association study for CPT1A variants and insulin resistance or type 2 diabetes mellitus. We screened all exons by direct sequencing of PCR products from 22 DNA samples.…”

“…The gene for the hepatic isoform of CPT1 (CPT1A) is located in human chromosomal region 11q13.1-q13. 5 [16][17][18][19]. Adults and children with inborn errors in fatty acid oxidation exhibit severe metabolic disturbances including hypoketotic hypoglycemia and fatty liver [20].…”