4.5 Review

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

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Summary: By developing a high-throughput functional assay, we were able to determine the clinical significance of OTC gene variants. Our assay successfully differentiated pathogenic variants from benign variants, as well as variants with different disease onset. The results of our study could lead to reclassification of certain variants, providing more accurate clinical guidance.

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Rastislav Sysak et al.

Summary: Ornithine transcarbamylase deficiency can lead to hyperammonemia in pregnant women, particularly in the first week after delivery. This article emphasizes the importance of strict adherence to protein intake recommendations and multidisciplinary monitoring for pregnant patients with OTC deficiency. It also discusses a case of severe hepatic failure in an OTC deficient patient during pregnancy.

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Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

Koji Imoto et al.

Summary: This study investigated the mechanism of hyperammonemia induced by corticosteroid administration in a mouse model of OTCD. The results showed that corticosteroids induced hyperammonemia in OTCD mice by both muscle catabolism and suppression of gene expressions related to the urea cycle. Early intervention with renal replacement therapy should be considered in corticosteroid-induced UCD patients to prevent brain injuries or fatal outcomes.

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Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes

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Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature

Xin Jin et al.

Summary: Liver transplantation can fundamentally solve the problem of ammonia metabolism in the liver and avoid further damage to the central nervous system caused by hyperammonemia in OTCD patients with central nervous system injury. At the same time, if liver transplantation is performed as soon as possible, nerve repair is still possible, especially in children whose nervous systems are in the developmental stage.

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A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities

Jessica Abbott et al.

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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Berna Seker Yilmaz et al.

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Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

Gabriella Pinho et al.

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Management of late onset urea cycle disorders-a remaining challenge for the intensivist?

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Ornithine Transcarbamylase - From Structure to Metabolism: An Update

Morgane Couchet et al.

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Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

Julien Baruteau et al.

Summary: X-linked inherited ornithine transcarbamylase deficiency (OTCD) can lead to acute hyperammonemia despite current therapies, and liver transplantation is a curative option with risks. AAV vectors, specifically AAVLK03, were studied for treating OTCD in a non-human primate model and demonstrated safety and effectiveness in delivering the OTC gene to the liver.

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Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency

Daniel Kazmierski et al.

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Masaoki Hidaka et al.

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Challenges in diagnosing and managing adult patients with urea cycle disorders

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Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

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Ayca Acikalin

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Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

Ljubica Caldovic et al.

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Initial presentation of a urea cycle disorder in adulthood: an under-recognised cause of severe neurological dysfunction

James R. Anstey et al.

MEDICAL JOURNAL OF AUSTRALIA (2015)

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Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Anais Brassier et al.

ORPHANET JOURNAL OF RARE DISEASES (2015)

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Early intervention for late-onset ornithine transcarbamylase deficiency

Daisuke Fujisawa et al.

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Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Corinne M. Rueegger et al.

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Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency

Courtney Sprouse et al.

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Selection and evaluation of clinically relevant AAV variants in a xenograft liver model

Leszek Lisowski et al.

NATURE (2014)

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Management of Ornithine Transcarbamylase Deficiency in Pregnancy

Hector Mendez-Figueroa et al.

AMERICAN JOURNAL OF PERINATOLOGY (2010)

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

Ziv Ben-Ari et al.

JOURNAL OF HEPATOLOGY (2010)

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Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency

Vanessa R. Thurlow et al.

ANNALS OF CLINICAL BIOCHEMISTRY (2010)

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Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies

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JOURNAL OF INHERITED METABOLIC DISEASE (2004)

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Mutations and polymorphisms in the human ornithine transcarbamylase gene

M Tuchman et al.

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