Results 151 to 160 of about 3,709 (187)

Recurrent pancreatitis in ornithine transcarbamylase deficiency

Molecular Genetics and Metabolism, 2012
Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. We report three patients with OTC deficiency with recurrent pancreatitis. The pathogenesis of acute pancreatitis in this patient population requires further elucidation.
Carlos E, Prada, Ajay, Kaul, Robert J, Hopkin, Kimberley I, Page, Jaimie D, Nathan, Dennis W, Bartholomew, Mitchell B, Cohen, James E, Heubi, Nancy D, Leslie, T Andrew, Burrow   +9 more
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DNA analysis of ornithine transcarbamylase deficiency

European Journal of Pediatrics, 1988
By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers.
U, Wendel, E, Wilichowski, J, Schmidtke, C, Bachmann   +3 more
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Ornithine Transcarbamylase Deficiency Presenting as Hepatitis

Pediatric Emergency Care, 2011
Ornithine transcarbamylase deficiency is an inborn error of metabolism that commonly presents as hyperammonemia in neonates. We present a case of a 2-year-old girl who was referred to a pediatric emergency department for evaluation of hepatitis, an uncommon presentation of ornithine transcarbamylase deficiency. Recognition of late presentations of this
Paul L, Aronson, Rakesh D, Mistry
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An autopsy case of ornithine transcarbamylase deficiency

Brain and Development, 2002
We present an autopsy case of ornithine transcarbamylase (OTC) deficiency with grumose degeneration in the dentate nucleus of the cerebellum. The patient had intractable neonatal convulsions and hyperammonemia from the 3rd day after birth. Diagnosis of OTC deficiency was made based on null activity of the enzyme and four-base deletions in exon 9 of the
Hideo, Yamanouchi, Hideaki, Yokoo, Yukihiro, Yuhara, Ken-ichi, Maruyama, Atsushi, Sasaki, Junko, Hirato, Yoichi, Nakazato   +6 more
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Prenatal treatment of ornithine transcarbamylase deficiency

Molecular Genetics and Metabolism, 2018
Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor.
Yael, Wilnai, Yair J, Blumenfeld, Kristina, Cusmano, Susan R, Hintz, Deborah, Alcorn, William E, Benitz, William E, Berquist, Jonathan A, Bernstein, Ricardo O, Castillo, Waldo, Concepcion, Tina M, Cowan, Kenneth L, Cox, Deirdre J, Lyell, Carlos O, Esquivel, Margaret, Homeyer, Louanne, Hudgins, Melissa, Hurwitz, Jonathan P, Palma, Susan, Schelley, Vishnu Priya, Akula, Marshall L, Summar, Gregory M, Enns   +21 more
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Electroencephalographic Findings in Ornithine Transcarbamylase Deficiency

Journal of Child Neurology, 1999
A 3-day-old infant presented with anorexia, irritability, hypotonia, and seizures. Blood ammonia was 2115 pmol/L and amino and organic acid analyses were consistent with ornithine transcarbamylase deficiency. Liver biopsy confirmed only 1% enzyme activity. The patient was treated with hemodialysis.
P, Brunquell, K, Tezcan, F J, DiMario
openaire   +2 more sources

Carrier detection in ornithine transcarbamylase deficiency

Journal of Inherited Metabolic Disease, 1980
AbstractWe have studied six known heterozygotes for ornithine transcarbamylase (McKusick 31125; OTC) deficiency. All had abnormal results when tested by measurement of urine orotic acid after protein loading. Duodenal mucosa OTC assay detected fewer of the known heterozygotes but was a useful supplementary test.
E A, Haan, D M, Danks, A, Grimes, N J, Hoogenraad   +3 more
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The molecular basis of ornithine transcarbamylase deficiency

European Journal of Pediatrics, 2000
The ornithine transcarbamylase (OTC) gene is located on the short arm of the X-chromosome and encodes the second enzyme of the urea cycle. OTC deficiency is an X-linked disorder that causes hyperammonemia leading to brain damage, mental retardation and death.
M, Tuchman, B A, McCullough, M, Yudkoff
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Partial Ornithine Transcarbamylase Deficiency

PEDIATRICS, 2003
To the Editor .— We have read the article by Scaglia et al1 in which they describe the case report of a patient affected by ornithine transcarbamylase deficiency (OTCD) finally diagnosed after several approaches. Symptoms and routine metabolic analyses prompted genetic evaluation. After exhaustive research, no alteration could be found in the OTC gene.
E. Riudor, J. A. Arranz, M. Rodes, F. Scaglia, Q. Zheng, W. E. O'Brien, J. Henry, J. Rosenberger, B. Lee, P. Reeds   +9 more
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Ornithine Transcarbamylase Deficiency

New England Journal of Medicine, 1973
Abstract Three successive male infants in one family became comatose and died at less than 10 days of age.
A G, Campbell, L E, Rosenberg, P J, Snodgrass, C T, Nuzum   +3 more
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