scholarly journals Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

2016 ◽  
pp. 95-99 ◽  
Author(s):  
Anne-Els van de Logt ◽  
Leo A. J. Kluijtmans ◽  
Marleen C. D. G. Huigen ◽  
Mirian C. H. Janssen
Keyword(s):  
Adult Onset ◽  
Acetylglutamate Synthase

scholarly journals Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

2013 ◽  
Vol 40 (1) ◽  
pp. 3-9 ◽  
Author(s):  
A. Cartagena ◽  
A.N. Prasad ◽  
C.A. Rupar ◽  
M. Strong ◽  
M. Tuchman ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Clinical Presentation ◽  
Urea Cycle ◽  
Neuropsychiatric Symptoms ◽  
Glutamate Synthase ◽  
Illustrative Case ◽  
Adult Onset ◽  
Treatment Regimens ◽  
Life Saving ◽  
Acetylglutamate Synthase

Abstract:N-acetyl-glutamate synthase (NAGS) deficiency is a rare autosomal recessive urea cycle disorder (UCD) that uncommonly presents in adulthood. Adult presentations of UCDs include; confusional episodes, neuropsychiatric symptoms and encephalopathy. To date, there have been no detailed neurological descriptions of an adult onset presentation of NAGS deficiency. In this review we examine the clinical presentation and management of UCDs with an emphasis on NAGS deficiency. An illustrative case is provided. Plasma ammonia levels should be measured in all adult patients with unexplained encephalopathy, as treatment can be potentially life-saving. Availability of N-carbamylglutamate (NCG; carglumic acid) has made protein restriction largely unnecessary in treatment regimens currently employed. Genetic counselling remains an essential component of management of NAGS.

Adult-Onset Asthma Is Common But Largely Underrecognized

Ob Gyn News ◽  
2005 ◽  
Vol 40 (8) ◽  
pp. 46
Author(s):  
KATE JOHNSON
Keyword(s):  
Adult Onset

Large Study Links Rhinitis to Adult-Onset Asthma

2008 ◽  
Vol 38 (21) ◽  
pp. 30
Author(s):  
SHARON WORCESTER
Keyword(s):  
Large Study ◽  
Adult Onset

Auditorisches Training auch bei früher Schizophrenie-Erkrankung wirksam

2020 ◽  
Vol 88 (08) ◽  
pp. 488-489
Keyword(s):  
Early Onset ◽  
Adult Onset ◽  
Early Onset Schizophrenia

Die wenigen Studien zum kognitiven Training bei Patienten mit früh beginnender Schizophrenie (Early-Onset-Schizophrenia, EOS) zeigten einen geringeren Behandlungserfolg als das kognitive Training bei Patienten, die als Erwachsene erkrankt sind (Adult-Onset-Schizophrenia, AOS). Eine Sekundäranalyse zweier Studien prüfte jetzt, ob ein auditorisches Training (AT) bei beiden Patientengruppen unterschiedlich wirksam ist.

Novel clusters of adult-onset Diabetes: Casuistic from an Endocrinology Department

2019 ◽  
Author(s):  
Vitoria Duarte ◽  
Catarina Ivo ◽  
David Verissimo ◽  
Joao Silva ◽  
Luis Lopes ◽  
...  
Keyword(s):  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes
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