Results 91 to 100 of about 3,709 (187)

Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy

Annals of Internal Medicine: Clinical Cases
Typical male patients with ornithine transcarbamylase deficiency present in their early years with lethargy, seizure, and coma from hyperammonemia. An adult-onset phenotype, with sudden severe hyperammonemia emerging in otherwise-healthy men, has been ...
Bun Sheng, Ka Fai Yim, Tiffany Yan Lok Lam, Candace Yim Chan, Hencher Han Chih Lee   +4 more
doaj   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.

, 2007
Ornithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance. It is mainly characterized in males by acute encephalopathy and hyperammonaemia with fatal outcomes in both classical neonatal and ...
T.‐S. Siu, S. Tam, S. K. Li, Siu, TS, Li, SK, Lau, KY, K.‐Y. Lau, Mak, CM, Tang, NL, C.‐W. Lam, C. M. Mak, N. L. Tang, Lam, CW, Kwong, NS, Low, LC, K.‐Y. Wong, Poon, GW, G. C.‐F. Chan, N.‐S. Kwong, Chan, GC, Wong, KY, Tam, S, G. W.‐K. Poon, L. C.‐K. Low   +23 more
core   +1 more source

Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency

, 2016
A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, L-citrulline, and L-arginine as well as sodium benzoate.
Tamar Stricker, Johannes Häberle, Alexander Laemmle, Häberle, Johannes, Laemmle, Alexander, Stricker, Tamar   +5 more
core   +1 more source

Partial deficiency of ornithine transcarbamylase. A case report [PDF]

Farmacia Hospitalaria, 2014
M. Pellicer Corbí, C. Herranz Muñoz, G. Baldominos Utrilla, M. Fernández-Pacheco García-Valdecasas   +3 more
doaj   +1 more source

Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylast deficiency

, 2008
Objectives To report the clinical manifestations of acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency (OTCD). Design Case report. Setting Intensive care unit of a tertiary medical centre.
Tran, Khoa, White, Hayden, Panlaqui, Ogee Mer, McGill, Jim, Johns, Amanda   +4 more
core   +1 more source

Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma

, 2009
Hyperammonaemia due to ornithine transcarbamylase (OTC) deficiency is a well-described cause of coma in neonates. Rarely, adults with this disorder may also present with coma.
Reade, Michael C., Dewey, Helen M., Simpson, Marion A., Sugumar, Hariharan, Walker, Susan P., Crosbie, David C.   +5 more
core  

Diffusion Tensor Imaging in Ornithine Transcarbamylase Deficiency

, 2016
The Urea Cycle Disorders (UCDs) are a relatively common (1:8200) group of inborn errors of ammonia metabolism. They have been correlated with a wide range of neurological deficits ranging from mild, nonverbal learning disabilities in heterozygote ...
Barkovich, Emil Jernstedt, Gropman, Andrea L.   +1 more
core  

Acute hyperammonemic encephalopathy masquerading as postoperative delirium in a patient who underwent lung surgery: a case report

BMC Anesthesiology
Background Acute hyperammonemic encephalopathy (AHE) is a life-threatening condition. Hyperammonemia-induced mental disorders that appear after surgery and general anesthesia can be easily confused with postoperative delirium, especially in patients ...
Chao-Qin Chen, Zhen-Ping Hu, Xu-Jie Ma, Xiao-Dong Tang, Xia Zheng, Yong-Xing Yao   +5 more
doaj   +1 more source

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem. [PDF]

JIMD Rep, 2023
Forsyth R, Peretz RH, Dempsey A, Britton J, Kratz L, Hamosh A, Vernon H, Batshaw ML, Valle D.   +8 more
europepmc   +1 more source