Cargando…

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cavicchi, Catia, Chilleri, Chiara, Fioravanti, Antonella, Ferri, Lorenzo, Ripandelli, Francesco, Costa, Cinzia, Calabresi, Paolo, Prontera, Paolo, Pochiero, Francesca, Pasquini, Elisabetta, Funghini, Silvia, la Marca, Giancarlo, Donati, Maria Alice, Morrone, Amelia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5855567/ https://www.ncbi.nlm.nih.gov/pubmed/29364180 http://dx.doi.org/10.3390/ijms19020345

Ejemplares similares

Transcriptional Regulation of N-Acetylglutamate Synthase
por: Heibel, Sandra Kirsch, et al.
Publicado: (2012)

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
por: Williams, Monique, et al.
Publicado: (2018)

A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase
por: Qu, Qiuhao, et al.
Publicado: (2007)

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase
por: Sonaimuthu, P., et al.
Publicado: (2021)

The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms
por: Shi, Dashuang, et al.
Publicado: (2015)

Effect of arginine on oligomerization and stability of N-acetylglutamate synthase
por: Haskins, N., et al.
Publicado: (2016)

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
por: Cavicchi, Catia, et al.
Publicado: (2014)

Expression Pattern and Biochemical Properties of Zebrafish N-Acetylglutamate Synthase
por: Caldovic, Ljubica, et al.
Publicado: (2014)

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment
por: Mew, Nicholas Ah, et al.
Publicado: (2011)

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
por: Kenneson, Aileen, et al.
Publicado: (2020)

High frequency of biotinidase deficiency in Italian population identified by newborn screening
por: Funghini, Silvia, et al.
Publicado: (2020)

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies
por: Catarzi, Serena, et al.
Publicado: (2013)

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
por: Häberle, Johannes
Publicado: (2011)

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report
por: Selvanathan, Arthavan, et al.
Publicado: (2022)

Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods
por: Haskins, Nantaporn, et al.
Publicado: (2008)

A novel type of N-acetylglutamate synthase is involved in the first step of arginine biosynthesis in Corynebacterium glutamicum
por: Petri, Kathrin, et al.
Publicado: (2013)

Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
por: Al-Qattan, Sarah, et al.
Publicado: (2021)

A Novel N-Acetylglutamate Synthase Architecture Revealed by the Crystal Structure of the Bifunctional Enzyme from Maricaulis maris
por: Shi, Dashuang, et al.
Publicado: (2011)

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra
por: Al Kaabi, Eiman H., et al.
Publicado: (2016)

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
por: Tonin, Rodolfo, et al.
Publicado: (2016)

Migraine and epilepsy: what value today?
por: Costa, Cinzia, et al.
Publicado: (2015)

Lead Poisoning: Historical Aspects of a Paradigmatic "Occupational and Environmental Disease"
por: Riva, Michele Augusto, et al.
Publicado: (2012)

SARS-CoV-2 infection in a patient with propionic acidemia
por: Caciotti, Anna, et al.
Publicado: (2020)

Insight on an Arginine Synthesis Metabolon from the Tetrameric Structure of Yeast Acetylglutamate Kinase
por: de Cima, Sergio, et al.
Publicado: (2012)

N-acetylglutamic acid alleviates oxidative stress based on histone acetylation in plants
por: Hirakawa, Takeshi, et al.
Publicado: (2023)

Acute and transient psychosis: A paradigmatic approach
por: Malhotra, Savita
Publicado: (2007)

Paradigmatic working memory (attractor) cell in IT cortex
por: Amit, Daniel J, et al.
Publicado: (1996)

Correct Modeling of Cisplatin: a Paradigmatic Case
por: Tasinato, Nicola, et al.
Publicado: (2017)

Touching Base with Some Mediterranean Diseases of Interest from Paradigmatic Cases at the “Magna Graecia” University Unit of Infectious Diseases: A Didascalic Review
por: Lionello, Ferdinando Carmelo Pio, et al.
Publicado: (2023)

Atopic dermatitis: a paradigmatic allergic skin disease.
por: Bieber, T
Publicado: (2001)

Dynamic reprogramming of chromatin: paradigmatic palimpsests and HES factors
por: Kok, Kurtulus, et al.
Publicado: (2015)

Long Duration of Ground Motion in the Paradigmatic Valley of Mexico
por: Cruz-Atienza, V. M., et al.
Publicado: (2016)

Sperm Parameters: Paradigmatic Index of Good Health and Longevity
por: Omu, Alexander E.
Publicado: (2013)

Sex Differences in Neuropathy: The Paradigmatic Case of MetFormin
por: De Angelis, Federica, et al.
Publicado: (2022)

Long term headache duration is a factor predicting nonresponse to detoxification and advice in medication overuse headache
por: Caproni, Stefano, et al.
Publicado: (2014)

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
por: Cavicchi, Catia, et al.
Publicado: (2021)

Generation of a Yeast Cell Model Potentially Useful to Identify the Mammalian Mitochondrial N-Acetylglutamate Transporter
por: Gorgoglione, Ruggiero, et al.
Publicado: (2023)

From Isolated to Networked: A Paradigmatic Shift in Mitochondrial Physiology
por: Aon, Miguel A.
Publicado: (2010)

A paradigmatic case of haemolysis and pseudohyperkalemia in blood gas analysis
por: Salvagno, Gian Luca, et al.
Publicado: (2019)

Multi-criteria evaluation in paradigmatic perspectives of agricultural environmental management
por: Fatemi, Mahsa, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_en41rh1mo8d8end9v3be8v7duo