Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Annals of Hematology
Published in: Annals of Hematology 7/2011

01-07-2011 | Letter to the Editor

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

Authors: Ellen Ritter, Ralf A. Husain, Katrin Hinderhofer, Tino Prell, Hans-Jörg Fricke, Sebastian Scholl, Andreas Hochhaus, Paul La Rosée

Published in: Annals of Hematology | Issue 7/2011

Login to get access

Excerpt

Dear Editor, …
Literature
1.
Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M (2006) Mutations and polymorphisms in the human ornithine transcarbamylase (otc) gene. Hum Mutat 27(7):626–632PubMedCrossRef
2.
Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U (1984) Human ornithine transcarbamylase locus mapped to band xp21.1 near the duchenne muscular dystrophy locus. Science 226(4675):698–700PubMedCrossRef
3.
Rohininath T, Costello DJ, Lynch T, Monavari A, Tuchman M, Treacy EP (2004) Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies. J Inherit Metab Dis 27(2):285–288PubMedCrossRef
4.
Harada E, Nishiyori A, Tokunaga Y, Watanabe Y, Kuriya N, Kumashiro R, Kuno T, Kuromaru R, Hirose S, Ichikawa K, Yoshino M (2006) Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile. Pediatr Int 48(2):105–111PubMedCrossRef
5.
Atiq M, Holt AF, Safdar K, Weber F, Ravinuthala R, Jonas ME, Neff GW (2008) Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. J Clin Gastroenterol 42(2):213–214PubMedCrossRef
6.
Thakur V, Rupar CA, Ramsay DA, Singh R, Fraser DD (2006) Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. Pediatr Crit Care Med 7(3):273–276PubMedCrossRef
7.
Trivedi M, Zafar S, Spalding MJ, Jonnalagadda S (2001) Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding. J Clin Gastroenterol 32(4):340–343PubMedCrossRef
8.
Felig DM, Brusilow SW, Boyer JL (1995) Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. Gastroenterology 109(1):282–284PubMedCrossRef
9.
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW (2005) Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 21(4 Suppl):S1–S8PubMedCrossRef
10.
Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM (1998) The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis 21(Suppl 1):40–58PubMedCrossRef
Metadata
Title
Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin’s lymphoma
Authors
Ellen Ritter
Ralf A. Husain
Katrin Hinderhofer
Tino Prell
Hans-Jörg Fricke
Sebastian Scholl
Andreas Hochhaus
Paul La Rosée
Publication date
01-07-2011
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 7/2011
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-010-1106-y

Other articles of this Issue 7/2011

Annals of Hematology 7/2011 Go to the issue

Letter to the Editor

Autoimmune hemolytic anemia and autoimmune neutropenia in a child with erythroblastopenia of childhood (TEC) caused by human herpesvirus-6 (HHV-6)

Original Article

Enhanced activation of autophagy in β-thalassemia/Hb E erythroblasts during erythropoiesis

Original Article

Primary bone marrow diffuse large B cell lymphoma: a case series and review

Original Article

Quantitative analysis of Hb Bart’s in cord blood by capillary electrophoresis system

Original Article

Flow cytometry and cytomorphology evaluation of hematologic malignancy in cerebrospinal fluids: comparison with retrospective clinical outcome

Letter to the Editor

Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard–Soulier syndrome
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discuss last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits