Ornithine Transcarbamylase Deficiency Unmasked Because of Gastrointestinal Bleeding

Trivedi, Madhuri; Zafar, Shahid; Spalding, Marianne; Jonnalagadda, Sreenivasa S.

doi:10.1097/00004836-200104000-00013

Cited by 30 publications

(19 citation statements)

References 12 publications

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“…These include valproate [6], gastrointestinal bleeding [7], parenteral nutrition [8] and possibly corticosteroids [5,9]. In the present case hyperammonemic encephalopathy and steroid administration showed correlation, and, in addition, a corticosteroid-dose dependence of the clinical manifestations was evident (Fig.…”

supporting

confidence: 55%

Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin’s lymphoma

et al. 2010

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supporting

confidence: 55%

Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin’s lymphoma

et al. 2010

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“…These disorders are not considered prominent among metabolic diseases that cause severe hepatic dysfunction and ALF 4,5 , despite past reports of hepatocellular injury and ALF in individuals with ornithine transcarbamylase deficiency (OTCD) 7–11 . OTCD is the most common UCD, and is an X-linked genetic disorder that affects both males and females.…”

mentioning

confidence: 99%

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

Gallagher

Lam

Wong

et al. 2014

The Journal of Pediatrics

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Objective To 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 (UCD). Study design A historical cohort study was performed. Charts were reviewed at two centers to assess the proportion of 71 individuals with OTCD who had evidence of ALF (INR ≥ 2.0), liver dysfunction (INR 1.5–1.99), or hepatocellular injury (AST/ALT≥ 250 IU/L). Results 57% of the 49 patients with symptomatic OTCD had liver involvement: 29% met the criteria for ALF, 20% had liver dysfunction, and 8% had isolated hepatocellular injury. The proportion with ALF was greatest in those with more severe OTCD, including neonates with markedly elevated ammonia levels (> 1,000 μmol/L). Some patients with severe liver involvement (INR ≥ 2.0 and AST/ALT > 1,000 IU/L) had only moderate hyperammonemia (100 – 400 μmol/L). ALF was the initial presenting symptom of OTCD in at least 3 of 49 symptomatic OTCD patients. Conclusions Episodes of hepatocellular injury, liver dysfunction, and ALF were identified in a high proportion of individuals with symptomatic OTCD. The more severely affected OTCD patients had a higher likelihood of ALF. The diagnosis of a UCD should be considered in unexplained ALF, liver dysfunction or hepatocellular injury.

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“…The OTC gene is located on the short arm of the X chromosome, and its X-linked recessive inheritance makes it the only urea cycle defect not to be inherited in an autosomal recessive manner [4]. Most males with the deficiency die as neonates.…”

Section: Discussionmentioning

confidence: 99%

Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency

Roberts

Galbreath

Patel

et al. 2013

Case Reports in Critical Care

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Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be substantially hyperammonemic and did not improve with lactulose therapy and continuous venovenous hemodialysis. Results. Biochemical testing revealed previously undiagnosed ornithine transcarbamylase deficiency, and the patient responded to arginine, sodium phenylacetate, and sodium benzoate. Conclusion. Even in adult patients with no known history, inborn errors of metabolism must be considered in the differential diagnosis of unexplained coma. Defects of the urea cycle can present with an unprovoked hyperammonemic coma.

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Ornithine Transcarbamylase Deficiency Unmasked Because of Gastrointestinal Bleeding

Cited by 30 publications

References 12 publications

Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin’s lymphoma

Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin’s lymphoma

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency

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