Results 81 to 90 of about 467,750 (151)

Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature

Case Reports in Medicine, 2016
Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods.
Ruby Upadhyay, Thomas P. Bleck, Katharina M. Busl   +2 more
doaj   +1 more source

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

, 2006
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to ...
Diogo, L, Cenni, B, Soares, P A, Teles, E L, Wermuth, B, Azevedo, L, Martins, E, Vilarinho, L, Amorim, A, Quental, R, Garcia, P   +10 more
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Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity [PDF]

, 2018
Ornithine transcarbamylase deficiency shows X-linked inheritance with partial dominant expression in carrier females. We studied a girl with intermittent severe orotic aciduria and mild hyperammonaemia despite apparently normal enzyme activity in the ...
Wermuth, B., Steiner, F., Schaffner, T., Zurbrügg, R., Wiesmann, U., Vella, S., Schlumbom, V.   +6 more
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Hypertransaminasemia and ornithine transcarbamylase deficiency

, 1995
The Authors report 4 girls with hypertransaminasemia and hepatic failure; in three patients the initial diagnosis was of unknown origin hepatitis, after the exclusion of the most frequent infectious and metabolic hepatic diseases; in one girl the assay ...
Donati M. A., Filippi L., Repetto T., Comellini L., Mascolo G., Zammarchi E., Morrone A.   +6 more
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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

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

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
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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

Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

, 1995
Ornithine transcarbamylase (OTC) deficiency, the most common inborn error of the urea cycle, shows an X-linked inheritance with frequent new mutations. Investigations of patients with OTC deficiency have indicated an overproportionate share of mutations ...
Colombo JP, Wermuth B, Liechti-Gallati S, Oppliger Leibundgut EO   +3 more
core   +1 more source

Chicken Ornithine Transcarbamylase: Purification and Some Properties

, 1983
Ornithine transcarbamylase [EC 2.1.3.3] has been purified from chick kidney to homogeneity. The molecular weight is 110,000 as determined by gel filtration.
Soichi Tsuji
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