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Dirk E Peterson - One of the best experts on this subject based on the ideXlab platform.
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Acute postpartum mental status change and coma caused by previously undiagnosed Ornithine Transcarbamylase Deficiency.
Obstetrics and gynecology, 2003Co-Authors: Dirk E PetersonAbstract:Acute postpartum mental status change usually represents postpartum blues or depression. Psychosis and coma are rare. This is a case report of a patient with previously undiagnosed Ornithine Transcarbamylase Deficiency presenting as postpartum acute mental status change and coma. A 28-year-old multipara developed acute mental status change and coma 3 days after cesarean delivery. A metabolic profile and neurologic workup were unrevealing. An electroencephalogram revealed diffusely slow brain activity. She developed hyperammonemia and hyperglutaminemia and was diagnosed with Ornithine Transcarbamylase Deficiency. Her newborn son was diagnosed with Ornithine Transcarbamylase Deficiency on the previous day. Treatment with oral lactulose resulted in normalization of her ammonia level and resolution of her coma within 48 hours. She suffers no long-term sequelae. Dietary avoidance of protein was advised; outpatient treatment with sodium benzoate, sodium phenylacetate, and lactulose was initiated. A pedigree analysis is ongoing. Ornithine Transcarbamylase Deficiency should be included in the differential diagnosis of acute postpartum coma. Hyperammonemia, hyperglutaminemia, and orotic aciduria are diagnostic, facilitate early treatment, and mitigate the risk of permanent neurologic impairment or death.
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Acute postpartum mental status change and coma caused by previously undiagnosed Ornithine Transcarbamylase Deficiency.
Obstetrics & Gynecology, 2003Co-Authors: Dirk E PetersonAbstract:Abstract Background Acute postpartum mental status change usually represents postpartum blues or depression. Psychosis and coma are rare. This is a case report of a patient with previously undiagnosed Ornithine Transcarbamylase Deficiency presenting as postpartum acute mental status change and coma. Case A 28-year-old multipara developed acute mental status change and coma 3 days after cesarean delivery. A metabolic profile and neurologic workup were unrevealing. An electroencephalogram revealed diffusely slow brain activity. She developed hyperammonemia and hyperglutaminemia and was diagnosed with Ornithine Transcarbamylase Deficiency. Her newborn son was diagnosed with Ornithine Transcarbamylase Deficiency on the previous day. Treatment with oral lactulose resulted in normalization of her ammonia level and resolution of her coma within 48 hours. She suffers no long-term sequelae. Dietary avoidance of protein was advised; outpatient treatment with sodium benzoate, sodium phenylacetate, and lactulose was initiated. A pedigree analysis is ongoing. Conclusion Ornithine Transcarbamylase Deficiency should be included in the differential diagnosis of acute postpartum coma. Hyperammonemia, hyperglutaminemia, and orotic aciduria are diagnostic, facilitate early treatment, and mitigate the risk of permanent neurologic impairment or death.
Mark L. Batshaw - One of the best experts on this subject based on the ideXlab platform.
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hepatocellular carcinoma in a research subject with Ornithine Transcarbamylase Deficiency
Molecular Genetics and Metabolism, 2012Co-Authors: James M. Wilson, Oleg A Shchelochkov, Renata C Gallagher, Mark L. BatshawAbstract:Abstract A 66year old woman who is a manifesting heterozygote for Ornithine Transcarbamylase Deficiency (OTCD) presented with hepatocellular carcinoma (HCC). Fourteen years prior to this presentation she participated in a phase I gene therapy study which used an adenoviral vector, thought to be non-oncogenic, to deliver a normal OTC gene to hepatocytes [1]. A recent review of data collected through a national longitudinal study of individuals with urea cycle defects [2,3] suggests that early urea cycle disorders (UCDs) are associated with hepatocellular damage and liver dysfunction in many cases. This may predispose an affected individual to a substantially increased risk of developing HCC, as has been observed in certain other inborn errors of metabolism. We speculate that the underlying urea cycle defect may be the cause of HCC in this individual.
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metabolic and neuropsychological phenotype in women heterozygous for Ornithine Transcarbamylase Deficiency
Annals of Neurology, 2004Co-Authors: Kunsang Gyato, J Wray, Zhihuan J Huang, Marc Yudkoff, Mark L. BatshawAbstract:We compared neurocognitive indices with clinical status, mutation analysis, and urea synthetic capacity in 19 women heterozygous for Ornithine Transcarbamylase Deficiency. Although as a group, these women had average IQ scores, they displayed a specific neuropsychological phenotype with significant strengths in verbal intelligence, verbal learning, verbal memory, and reading, and significant weaknesses in fine motor dexterity/speed and nonsignificant weaknesses in nonverbal intelligence, visual memory, attention/executive skills, and math. This suggests selective vulnerability of white matter and better preservation of gray matter. When the group was divided into symptomatic and asymptomatic subgroups, based on either clinical history or residual urea synthetic capacity, the asymptomatic subgroup outperformed the symptomatic subgroup on all tested domains of neuropsychological functioning. Furthermore, the amount of residual urea synthetic capacity was predictive of several end point cognitive measures. There was no correlation between neonatal versus late-onset mutation or between normal or abnormal allopurinol challenge and neuropsychological outcome. In sum, we identified a specific metabolic and neurocognitive phenotype in women heterozygous for Ornithine Transcarbamylase Deficiency. The findings support the importance of maintaining meticulous metabolic control in children with urea cycle disorders, because even mildly symptomatic subjects demonstrate cognitive deficits.
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Detecting Heterozygotes for Ornithine Transcarbamylase Deficiency: Comparison of Allopurinol Loading Test With 15 NH 4 Loading Study† 744
Pediatric Research, 1998Co-Authors: Marc Yudkoff, Yevgeny Daikhin, Carol Paibin, Michael B. Robinson, Ilana Nissim, Mark L. BatshawAbstract:Detecting Heterozygotes for Ornithine Transcarbamylase Deficiency: Comparison of Allopurinol Loading Test With 15 NH 4 Loading Study† 744
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Measuring Ureagenesis In Vivo with Stable Isotopes Provides a Tool to Assess Efficacy of Gene Therapy for Ornithine Transcarbamylase Deficiency ♦ 727
Pediatric Research, 1998Co-Authors: Carol Pabin, Michael B. Robinson, Marc Yudkoff, James M. Wilson, Mark L. BatshawAbstract:Measuring Ureagenesis In Vivo with Stable Isotopes Provides a Tool to Assess Efficacy of Gene Therapy for Ornithine Transcarbamylase Deficiency ♦ 727
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Anti-CD4 Antibody Permits Readministration of Recombinant Adenovirus to Correct Ornithine Transcarbamylase Deficiency (OTCD) in the Sparse Fur( spf/Y ) Mice. • 638
Pediatric Research, 1997Co-Authors: Michael B. Robinson, Mark L. Batshaw, Carol Pabin, James M. WilsonAbstract:Anti-CD4 Antibody Permits Readministration of Recombinant Adenovirus to Correct Ornithine Transcarbamylase Deficiency (OTCD) in the Sparse Fur( spf/Y ) Mice. • 638
James M. Wilson - One of the best experts on this subject based on the ideXlab platform.
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hepatocellular carcinoma in a research subject with Ornithine Transcarbamylase Deficiency
Molecular Genetics and Metabolism, 2012Co-Authors: James M. Wilson, Oleg A Shchelochkov, Renata C Gallagher, Mark L. BatshawAbstract:Abstract A 66year old woman who is a manifesting heterozygote for Ornithine Transcarbamylase Deficiency (OTCD) presented with hepatocellular carcinoma (HCC). Fourteen years prior to this presentation she participated in a phase I gene therapy study which used an adenoviral vector, thought to be non-oncogenic, to deliver a normal OTC gene to hepatocytes [1]. A recent review of data collected through a national longitudinal study of individuals with urea cycle defects [2,3] suggests that early urea cycle disorders (UCDs) are associated with hepatocellular damage and liver dysfunction in many cases. This may predispose an affected individual to a substantially increased risk of developing HCC, as has been observed in certain other inborn errors of metabolism. We speculate that the underlying urea cycle defect may be the cause of HCC in this individual.
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Measuring Ureagenesis In Vivo with Stable Isotopes Provides a Tool to Assess Efficacy of Gene Therapy for Ornithine Transcarbamylase Deficiency ♦ 727
Pediatric Research, 1998Co-Authors: Carol Pabin, Michael B. Robinson, Marc Yudkoff, James M. Wilson, Mark L. BatshawAbstract:Measuring Ureagenesis In Vivo with Stable Isotopes Provides a Tool to Assess Efficacy of Gene Therapy for Ornithine Transcarbamylase Deficiency ♦ 727
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Anti-CD4 Antibody Permits Readministration of Recombinant Adenovirus to Correct Ornithine Transcarbamylase Deficiency (OTCD) in the Sparse Fur( spf/Y ) Mice. • 638
Pediatric Research, 1997Co-Authors: Michael B. Robinson, Mark L. Batshaw, Carol Pabin, James M. WilsonAbstract:Anti-CD4 Antibody Permits Readministration of Recombinant Adenovirus to Correct Ornithine Transcarbamylase Deficiency (OTCD) in the Sparse Fur( spf/Y ) Mice. • 638
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In vivo nitrogen metabolism in Ornithine Transcarbamylase Deficiency.
The Journal of clinical investigation, 1996Co-Authors: Marc Yudkoff, Yevgeny Daikhin, James M. Wilson, Itzhak Nissim, A Jawad, Mark L. BatshawAbstract:We developed a new technique that monitors metabolic competency in female heterozygotes for Ornithine Transcarbamylase Deficiency (OTCD). The method uses mass spectrometry to measure conversion of (15)NH4Cl to [15N]urea and [5-(15)N]glutamine following an oral load of (15)NH4Cl. We found that heterozygotes converted significantly less NH3 nitrogen to urea, with this difference being particularly obvious for symptomatic carriers, in whom the blood [15N]urea concentration (mM) was significantly less than control values at most time points. The blood concentration of [5-(15)N]-glutamine (microM) was significantly higher in both asymptomatic and symptomatic heterozygotes than it was in the control subjects. The administration of a test dose of sodium phenylbutyrate to the control group did not affect the rate of [15N]urea formation. We conclude: (a) This test effectively monitors in vivo N metabolism and might obviate the need for liver biopsy to measure enzyme activity in OTCD; (b) Asymptomatic OTCD carriers form urea at a normal rate, indicating that ureagenesis can be competent even though enzyme activity is below normal; (c) Although ostensibly asymptomatic OTCD carriers form urea at a normal rate, their nitrogen metabolism is still abnormal, as reflected in their increased production of [5-(15)N]glutamine; and (d) This new test may be important for monitoring the efficacy of novel treatments for OTCD, e.g., liver transplantation and gene therapy.
Michael B. Robinson - One of the best experts on this subject based on the ideXlab platform.
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Detecting Heterozygotes for Ornithine Transcarbamylase Deficiency: Comparison of Allopurinol Loading Test With 15 NH 4 Loading Study† 744
Pediatric Research, 1998Co-Authors: Marc Yudkoff, Yevgeny Daikhin, Carol Paibin, Michael B. Robinson, Ilana Nissim, Mark L. BatshawAbstract:Detecting Heterozygotes for Ornithine Transcarbamylase Deficiency: Comparison of Allopurinol Loading Test With 15 NH 4 Loading Study† 744
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Measuring Ureagenesis In Vivo with Stable Isotopes Provides a Tool to Assess Efficacy of Gene Therapy for Ornithine Transcarbamylase Deficiency ♦ 727
Pediatric Research, 1998Co-Authors: Carol Pabin, Michael B. Robinson, Marc Yudkoff, James M. Wilson, Mark L. BatshawAbstract:Measuring Ureagenesis In Vivo with Stable Isotopes Provides a Tool to Assess Efficacy of Gene Therapy for Ornithine Transcarbamylase Deficiency ♦ 727
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Anti-CD4 Antibody Permits Readministration of Recombinant Adenovirus to Correct Ornithine Transcarbamylase Deficiency (OTCD) in the Sparse Fur( spf/Y ) Mice. • 638
Pediatric Research, 1997Co-Authors: Michael B. Robinson, Mark L. Batshaw, Carol Pabin, James M. WilsonAbstract:Anti-CD4 Antibody Permits Readministration of Recombinant Adenovirus to Correct Ornithine Transcarbamylase Deficiency (OTCD) in the Sparse Fur( spf/Y ) Mice. • 638
Kunihiko Kobayashi - One of the best experts on this subject based on the ideXlab platform.
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Nitric oxide synthesis in Ornithine Transcarbamylase Deficiency: possible involvement of low no synthesis in clinical manifestations of urea cycle defect.
The Journal of pediatrics, 2004Co-Authors: Hironori Nagasaka, Tohru Yorifuji, Hideaki Kikuta, Kei Murayama, Haruki Komatsu, Toshihiro Ohura, Tsuyoshi Sogo, Ayano Inui, Masaki Takayanagi, Kunihiko KobayashiAbstract:Nitric oxide (NO) levels in plasma and urine were determined in 5 girls with Ornithine Transcarbamylase Deficiency (OTCD) of late-onset type, who often developed migraine-like headache or vomiting. The patients were found to have low NO synthesis, suggesting that the low NO synthesis contributes to the clinical manifestations of urea cycle defect.
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Successful living-donor liver transplantation from an asymptomatic carrier mother in Ornithine Transcarbamylase Deficiency
The Journal of pediatrics, 2001Co-Authors: Hironori Nagasaka, Tohru Yorifuji, Hiroto Egawa, Hideaki Kikuta, Koichi Tanaka, Kunihiko KobayashiAbstract:A liver transplantation from an asymptomatic mother, who was a carrier of Ornithine Transcarbamylase Deficiency, to her daughter, who had severe manifestation, was successfully performed. One-year monitoring of plasma amino acid and urinary orotate/orotidine levels revealed no abnormality in the urea cycle in either subject.