Results 31 to 40 of about 23,446 (182)
Urea Cycle Disorders in Neonates: Six Case Reports
Journal of Pediatric Research, 2017 Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik +7 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 +10 more
doaj +1 more source
Disease Models & Mechanisms, 2014 The urea cycle functions to incorporate ammonia, generated by normal metabolism, into urea. Urea cycle disorders (UCDs) are caused by loss of function in any of the enzymes responsible for ureagenesis, and are characterized by life-threatening episodes ...
Peter J. McGuire +8 more
doaj +1 more source
A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency [PDF]
, 2020 Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency.
Olgac, A. and Kasapkara, Ç.S. and Kilic, M. and Derinkuyu, B.E. and Azapagasi, E. and Kesici, S. and Biberoǧlu, G. and Ozyazici, A. and Karaca, M. and Haberle, J. +1 more
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Hyperammonemic coma in a patient with late-onset OTC deficiency
La Pediatria Medica e Chirurgica, 2014 Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them.
V. D’Onofrio +5 more
doaj +1 more source
Management of metabolic crisis in three-dayold newborn
Liječnički vjesnik, 2023 Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak +3 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2022 Citrin deficiency belongs to a group of urea cycle disorders that can be identified during newborn screening by measuring citrulline, phenylalanine, methionine, and galactose levels.
Toshihiro Suzuki +4 more
doaj +1 more source
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. [PDF]
, 2015 Loss of function of the urea cycle enzyme argininosuccinate lyase (ASL) is caused by mutations in the ASL gene leading to ASL deficiency (ASLD). ASLD has a broad clinical spectrum ranging from life-threatening severe neonatal to asymptomatic forms ...
Häberle, Johannes +14 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2016 The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an ...
Eiman H. Al Kaabi, Ayman W. El-Hattab
doaj +1 more source
Mutation analysis of Indian patients with urea cycle defects [PDF]
, 2012 Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis.
Gupta, Neerja +2 more
core +1 more source