Results 31 to 40 of about 2,610,885 (275)

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

Molecular Genetics and Metabolism Reports, 2020
N-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one ...
Katell Peoc'h, Léna Damaj, Romain Pelletier, Charles Lefèvre, Christèle Dubourg, Marie-Christine Denis, Claude Bendavid, Sylvie Odent, Caroline Moreau   +8 more
doaj   +1 more source

High Protein Diet and Huntington's Disease. [PDF]

PLoS ONE, 2015
Huntington's disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues.
Chiung-Mei Chen, Yow-Sien Lin, Yih-Ru Wu, Pei Chen, Fuu-Jen Tsai, Chueh-Lien Yang, Ya-Tzu Tsao, Wen Chang, I-Shan Hsieh, Yijuang Chern, Bing-Wen Soong   +10 more
doaj   +1 more source

Supporting your practice: Compounding sodium benzoate oral liquid for urea cycle disorders

, 2021
Urea cycle disorders (UCD) are rare inherited metabolic disorders with an incidence estimated to be 1: 35,000 births. UCDs are caused by the dysfunction of any of the six enzymes (namely, carbamoyl phosphate synthetase I, N-acetylglutamate synthetase ...
Haywood, Alison, Glass, Beverley
core   +1 more source

Ornithine Transcarbamylase Deficiency in Iranian Children [PDF]

Iranian Journal of Public Health, 2003
Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level.
HR Joshaghani, M Jalali, T Zaman   +2 more
doaj   +1 more source

Partial N‐acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management

JIMD Reports, 2023
N‐acetyl glutamate synthase (NAGS) deficiency (OMIM #: 237310) is a rare urea cycle disorder that usually presents early in life with hyperammonemia.
Lea Abou Haidar, Panayotis Pachnis, Garrett K. Gotway, Min Ni, Ralph J. DeBerardinis, Markey C. McNutt   +5 more
doaj   +1 more source

EVALUATION OF APPLIED DIETARY MANAGEMENT IN PATIENTS WITH UREA CYCLE DISORDERS [PDF]

Journal of Environmental Science, 2020
Urea cycle disorders (UCDs) represent a group of rare inherited metabolic disorders resulting from a partial or complete deficiency of one of the urea cycle components, thereby resulting in accumulation of ammonia, as well as other nitrogenous products ...
Neama NorEldin, Safwat Ali, Osama Zaki, Mohamed Omar   +3 more
doaj   +1 more source

Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes

, 2023
Ammonia, which is toxic to the brain, is converted into non-toxic urea, through a pathway of six enzymatically catalyzed steps known as the urea cycle.
Toshio Morizono, Shatha Salameh, Chansky, Pamela A, Felsen, Sara E, Sveta V. Jagannathan, Morizono, Toshio, Salameh, Shatha, Ismat, Karim, Morizono, Michio, Alex C. Edwards, Zhou, Zhe, Pamela A. Chansky, Ljubica Caldovic, Karim Ismat, Balick, Veronica M, Neerja Vashist, Jacklyn Andricovic, Dawson, Tyson, Ahn, Julie J, Williams, Emily C, Veronica M. Balick, Zhe Zhou, Tyson Dawson, Jacob A. Medina, Edwards, Alex C, Julie J. Ahn, Sara E. Felsen, Emily C. Williams, Caldovic, Ljubica, Brayer, Mallory, Mann, Brendan T, Michio Morizono, Andricovic, Jacklyn, Jagannathan, Sveta V, Brendan T. Mann, Morizono, Hiroki, Medina, Jacob A, Hiroki Morizono, Mallory Bryer, Vashist, Neerja   +39 more
core   +1 more source

Magnesium Deficiency and Urea Cycle Enzymes in Rat Liver.

Experimental Biology and Medicine, 1967
SummaryA statistically significant decrease in ornithine transcarbamylase in livers of magnesium deficient rats is reported. Since such an isolated enzymatic deficiency has usually been described in conditions where increased synthesis of pyrimidines is required and in view of certain manifestations of protein deficiency present in the experimental ...
G, Lizarralde, V E, Mazzocco, E B, Flink
openaire   +2 more sources

Vitamin A Deficiency Increases Protein Catabolism and Induces Urea Cycle Enzymes in Rats [PDF]

The Journal of Nutrition, 2010
Chronic vitamin A deficiency induces a substantial delay in the rates of weight and height gain in both humans and experimental animals. This effect has been associated with an impaired nutrient metabolism and loss of body protein. Therefore, we analyzed the effect of vitamin A deficiency on endogenous proteolysis and nitrogen metabolism and its ...
Guillermo, Esteban-Pretel, M Pilar, Marín, Francisco, Cabezuelo, Verónica, Moreno, Jaime, Renau-Piqueras, Joaquín, Timoneda, Teresa, Barber   +6 more
openaire   +2 more sources

Transient Hyperammonemia Due to Urea Cycle Enzyme Deficiency in Irish Wolfhounds

Journal of Veterinary Internal Medicine, 2007
Abstract Background:Irish Wolfhounds frequently have a congenital portosystemic shunt, but a considerable proportion of the 6-to 8-wk-old pups has hyperammonemia in the absence of portosystemic shunting. This hyperammonemia causes no signs and is transient, normalizing at the age of 3–4 months.
Zandvliet, M.M.J.M., Rothuizen, J.
openaire   +3 more sources