Results 191 to 200 of about 482,563 (236)

Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency

Clinica Chimica Acta, 1989
Complementary and genomic DNA clones corresponding to human ornithine transcarbamylase (OTC) have been isolated and analyzed. Restriction fragment length polymorphisms (RFCPs) on OTC gene locus were analyzed in Japanese female population. Based on these data, a prenatal diagnosis of OTC deficiency was carried out in a risk family. A C-to-T substitution
I, Matsuda, A, Hata, T, Matsuura, T, Tsuzuki, K, Shimada   +4 more
openaire   +2 more sources

An OTC deficiency ‘phenocopy’ in association with Klinefelter syndrome

Journal of Inherited Metabolic Disease, 2006
SummaryLate‐onset urea cycle disorder in a 20‐month‐old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures ...
L, Swarts, F, Leisegang, E P, Owen, H E, Henderson   +3 more
openaire   +2 more sources

Clinical application of DNA analysis in a family with OTC deficiency

American Journal of Medical Genetics, 1986
AbstractWe describe the clinical application of DNA restriction fragment analysis to the genetic evaluation of a family with a child deficient in ornithine transcarbamylase (OTC). The results of protein loading studies and the interpretation of the DNA haplotype profiles for the human OTC gene are reported.
Richard E. McClead, Rima Rozen, Joyce Fox, Leon Rosenberg, James Menke, Rex Bickers, Grant Morrow, John M. Opitz, James F. Reynolds   +8 more
openaire   +2 more sources

H Intragenic Polymorphisms and Haplotype Analysis in the Ornithine Transcarbamylase (OTC) Gene and Their Relevance for Tracking the Inheritance of OTC Deficiency [PDF]

Human Mutation, 2002
The "private" nature of most mutations causing ornithine transcarbamylase (OTC) deficiency makes mutation identification in the patients difficult. Further, the PCR-amplification technology generally used for the genetic diagnosis of the deficiency misses large deletions in carrier females.
Vicente Rubio
exaly   +3 more sources

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC

European Journal of Pediatrics, 2006
A contiguous deletion encompassing the genes for dystrophin, cytochrome b(-245) beta-subunit (CYBB), retinitis pigmentosa GTPase regulator (RPGR), and OTC was detected in a female patient only suffering from OTC deficiency while symptoms of the other conditions were not present.
Sibylle, Jakubiczka, Thomas, Bettecken, Klaus, Mohnike, Reinhard, Schneppenheim, Markus, Stumm, Holger, Tönnies, Marianne, Volleth, Peter, Wieacker   +7 more
openaire   +2 more sources

Ornithine transcarbamylase (OTC) Deficiency in a large kindred

Pathology, 1981
X-linkage of OTC deficiency is accepted because of differential severity of the disease in males and females and parallel differences in degree of enzyme deficiency. No large kindred has been published. The present kindred contains 12 males in 5 sibships who have died in the neonatal period with proven or probable hyperammonaemia, plus 2 females, aged
E.A. Haan, N. Hoogenraad, J.G. Rogers, D.M. Danks   +3 more
openaire   +1 more source

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency

Journal of Inherited Metabolic Disease, 1997
AbstractMutations P225L and P225R were identified in codon 225 of the gene for ornithine transcarbamylase (OTC) in two patients with the neonatal form of OTC deficiency. The mutations occur at a CpG dinucleotide and eliminate a unique MspI restriction site in exon 7 of the OTC gene. They do not alter existing splice sites or create new sites, as judged
M A, García-Pérez, C, Climent, P, Briones, M A, Vilaseca, M, Rodés, V, Rubio   +5 more
openaire   +2 more sources

A successful pregnancy in a heterozygote for OTC deficiency treated with sodium phenylbutyrate

Neurology, 2000
Ornithine transcarbamylase deficiency (OTC) is an X-linked disorder of urea synthesis that can cause hyperammonemic coma in the hemizygous men. Clinical manifestations in heterozygous women range from apparent normality to profound neurologic impairment. Cases of symptomatic carriers of OTC deficiency that have been successfully treated with drugs that
I, Redonnet-Vernhet, F, Rouanet, J M, Pedespan, C, Hocke, F, Parrot   +4 more
openaire   +2 more sources

Propionic Acidemia and Hyperlysinemia in a Case With Ornithine Transcarbamylase (OTC) Deficiency

The Journal of Clinical Endocrinology & Metabolism, 1976
A female infant with episodic hyperammonemia due to a disorder of the urea cycle and who had hyperlysinemia and an unusual elevation of short chain fatty acids, mainly propionate, is described. Both occurred apparently only during attacks of hyperammonemia. Propionic acidemia was ruled out by enzyme studies. OTC deficiency was diagnosed on the basis of:
I, Krieger, C, Bachmann, W H, Gronemeyer, J, Cejka   +3 more
openaire   +2 more sources

Postchemotherapy Hyperammonemic Encephalopathy Emulating Ornithine Transcarbamoylase (OTC) Deficiency

Southern Medical Journal, 2008
A young patient with hepatocellular carcinoma receiving chemotherapy presented with encephalopathy. Evaluation of the patient revealed a metabolic profile consistent with ornithine transcarbamoylase (OTC) deficiency, an inherited disorder of the urea cycle. The evaluation yielded a plasma amino acid analysis consistent with OTC deficiency.
Joseph S, Chan, Cary O, Harding, Charles D, Blanke   +2 more
openaire   +2 more sources