Mutation analysis of the ornithine transcarbamylase
(OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
An enzyme assay of a liver sample revealed reduced ornithine transcarbamylase
(OTC) activity; mitochondrial carbamoyl-phosphate synthetase 1 (CPS1) activity was within the reference range.
Jim Thorpe, PA 18229 (717) 325-3302 www.geocities:com/hotsprings/spa/2 ??email@example.com OPTIC NERVE HYPOPLASIA See: Septo-Optic Dysplasia ORBITAL HYPERTELORISM See: Craniofacial Disorders ORGANIC ACIDEMIA See: Acidemia, Organic ORNITHINE TRANSCARBAMYLASE
(OTC) DEFICIENCY See: Urea Cycle Disorders OROFACIODIGITAL SYNDROME TYPE I See: Ectodermal Dysplasias OSLER-WEBER-RENDU SYNDROME See: Hemorrhagic Telangiectasis, Hereditary OSTEOGENESIS IMPERFECTA See also: Growth Disorders Canadian Osteogenesis Imperfecta Society 128 Thornhill Crescent Chatham, ON CAN N7L 4M3 (519) 436-0025 (519) 351-4043 (fax) ??firstname.lastname@example.org 1,2,3,6 Osteogenesis Imperfecta Foundation 804 West Diamond Ave., Ste.
Then there were all the words I could hardly spell--hyperammonemia, urea cycle deficiency, ornithine transcarbamylase
from Streptococcus faecalis and phosphoribosyl pyrophosphate were obtained from Sigma-Aldrich, and alkaline phosphatase was obtained from Roche.
New research suggests that low concentrations of citrulline are observed in infants affected with carbamoyl phosphate synthase deficiency and perhaps ornithine transcarbamylase
The most common of these, with an incidence of 1 in 14 000 births (1), is the inherited X-linked disorder ornithine transcarbamylase
Long-term treatment of girls with ornithine transcarbamylase
The usefulness of this method was evaluated by analyzing urine samples from patients with established purine nucleoside phosphorylase deficiency, ornithine transcarbamylase
deficiency, molybdenum cofactor deficiency, adenylosuccinase deficiency, and dihydropyrimidine dehydrogenase deficiency.
In the analysis of urine from patients with orotic acidurias caused by orotate phosphoribosyltransferase (EC 18.104.22.168) and ornithine transcarbamylase
(EC 22.214.171.124) deficiency (data not shown), an easily identifiable but relatively broad peak of OA was observed.
Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase
deficiency: diagnostic failure of protein loading and allopurinol challenge tests.
Orotate measurements were also performed because secondary excretion of 5-oxoproline has been reported in some subjects with the X-linked disorder ornithine transcarbamylase