Cargando…
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms. We present a case of a previously healthy 22-year-old woman with unexplainable hypoglycemia and ence...
Autores principales: | Sousa Martins, Rute, Guimas, Arlindo, Rocha, Sara, Ribeiro, Rosa, Martins, Esmeralda, Almeida, Manuela, Quelhas, Dulce |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elmer Press
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913008/ https://www.ncbi.nlm.nih.gov/pubmed/35317090 http://dx.doi.org/10.14740/jmc3840 |
Ejemplares similares
-
Niemann-Pick Type B: A Rare Cause of Interstitial Lung Disease
por: Sousa Martins, Rute, et al.
Publicado: (2022) -
Hunter Syndrome: The Phenotype of a Rare Storage Disease
por: Sousa Martins, Rute, et al.
Publicado: (2022) -
Glutaric aciduria type1: CT diagnosis
por: Rai, Santosh P. V.
Publicado: (2009) -
Glutaric aciduria type 2 presenting with acute respiratory failure in an adult
por: Ersoy, Ebru Ortac, et al.
Publicado: (2015) -
Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene
por: Dudipala, Sai Chandar, et al.
Publicado: (2020)