Results 141 to 150 of about 3,709 (187)

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Journal of Hepatology, 2010
Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine ...
Adam Dalal, Silvio Pitlik, Jean-Marc Nuoffer   +2 more
exaly   +2 more sources

Hypertransaminasemia and ornithine transcarbamylase deficiency

, 1995
The Authors report 4 girls with hypertransaminasemia and hepatic failure; in three patients the initial diagnosis was of unknown origin hepatitis, after the exclusion of the most frequent infectious and metabolic hepatic diseases; in one girl the assay of blood ammonia at the beginning oriented to an urea cycle disorder.
Zammarchi E., Donati M. A., Filippi L., Morrone A., Repetto T., Mascolo G., Comellini L.   +6 more
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Ornithine transcarbamylase deficiency in pregnancy

Journal of Inherited Metabolic Disease, 2005
SummaryWomen heterozygous for mutations at the ornithine transcarbamylase (OTC) locus may be at risk for hyperammonaemia and its untoward effects including coma and death in the postpartum period. We present the case of a pregnant woman heterozygous for OTC deficiency (McKusick 311250) whose past medical history was significant for two prior ...
D R, Cordero, J, Baker, D, Dorinzi, R, Toffle   +3 more
openaire   +2 more sources

DNA Analysis for Ornithine Transcarbamylase Deficiency

Journal of Inherited Metabolic Disease, 1986
AbstractWe have utilized the Southern blotting technique to analyse genomic DNA from males with ornithine transcarbamylase (OTC) deficiency and their families. Using a nearly full‐length human cDNA probe, we have identified 3 patients with deletions at this locus and have characterized 4 different restriction fragment length polymorphisms that can be ...
R, Rozen, J E, Fox, A M, Hack, W A, Fenton, A L, Horwich, L E, Rosenberg   +5 more
openaire   +2 more sources

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency [PDF]

Journal of Pediatrics, 2014
ObjectiveTo determine the frequency of significant liver injury and acute liver failure (ALF) in patients with ornithine transcarbamylase deficiency (OTCD), the most common urea cycle defect.Study designIn this historical cohort study, charts of 71 ...
Renata C Gallagher, Derek Wong, Stephen D Cederbaum   +2 more
exaly   +2 more sources

Carnitine deficiency associated with ornithine transcarbamylase deficiency

Pediatric Neurology, 1991
An infant with X-linked recessive ornithine transcarbamylase deficiency is described who also had severe deficiency of plasma and liver carnitine during normoammonemic periods. Treatment with L-carnitine (100 mg/kg/day) for 12 months decreased the frequency of hospitalizations for hyperammonemia, although it did not alter his neurologic status.
E, Mayatepek, T W, Kurczynski, C L, Hoppel, W T, Gunning   +3 more
openaire   +2 more sources

Preimplantation diagnosis for ornithine transcarbamylase deficiency

Reproductive BioMedicine Online, 2000
Ornithine transcarbamylase (OTC) deficiency is a severe X-linked metabolic disorder leading to hyperammonaemia and death shortly after birth. Prenatal diagnosis for OTC deficiency is available, but may require termination of pregnancy if affected. Thus there is a need for an option for pre-pregnancy testing, to pre-select OTC deficiency-free embryos ...
Y, Verlinsky, S, Rechitsky, O, Verlinsky, C, Strom, A, Kuliev   +4 more
openaire   +2 more sources

Immunochemical study of ornithine transcarbamylase deficiency

Journal of Inherited Metabolic Disease, 1984
AbstractDeficiency of ornithine transcarbamylase (OTC, EC 2.1.3.3) (McKusick 31125), a mitochondrial enzyme of the urea cycle, appears to be one of the most frequent causes of inherited ammonia intoxication, and evidence indicates that the enzyme is X‐linked. Recently, different kinds of mutation have been reported (Cathelineauet al., 1972; Briandet al.
H, Kodama, H, Nagayama, H, Shimoizumi, I, Okabe, S, Kamoshita   +4 more
openaire   +2 more sources

Management of Ornithine Transcarbamylase Deficiency in Pregnancy

American Journal of Perinatology, 2010
Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. In catabolic states, such as the intrapartum and immediate postpartum periods, hyperammonemic comas with permanent neurological damage and death can develop.
Hector, Mendez-Figueroa, Kerri, Lamance, V Reid, Sutton, Kjersti, Aagaard-Tillery, Ignatia, Van den Veyver   +4 more
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Gene therapy for ornithine transcarbamylase deficiency

Pediatrics International, 1996
AbstractOrnithine transcarbamylase (OTC) deficiency in humans is the most common and severe inborn error of the urea cycle. Despite therapeutic advances, OTC deficiency remains without adequate treatment, hence mortality rates are high. In the two available strains of OTC‐deficient murine models, spf and spfash, researchers have tried to make genetic ...
K, Kiwaki, I, Matsuda
openaire   +2 more sources