Article
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.
Journal of inherited metabolic disease - 1 Jan 1995
Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S, Jitosho T, Matsuda I
Abstract excerpt
Ornithine carbamoyltransferase (OCT) is a liver-specific enzyme located in the mitochondrial matrix. OCT deficiency is an X-linked disease with a heterogeneous phenotype, even in affected males. We studied two male patients (K.M., K.G.) with early and late onset, respectively. OCT activity was zero in the autopsied liver of patient K.M. and was 6% of control in the biopsied liver of K.G. Sequencing of OCT cDNAs...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Blotting, Western
- Child, Preschool
- DNA, Complementary
- Humans
- Infant, Newborn
- Introns
- Liver
- Male
- Molecular Sequence Data