An L-2-Hydroxyglutaric Aciduria Case Presented With Acute Bacterial Meningitis.
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Emergency Care"
DOI: 10.1097/pec.0000000000001029
Abstract: To the Editors: L -2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive genetic disease. Clinically, it shows progressive psychomotor developmental delay and cerebral symptoms. Macrocephaly is a finding that must alert the clinicians to the… read more here.
Keywords: aciduria; case presented; aciduria case; acute bacterial ... See more keywords
Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000006362
Abstract: A 9-year-old girl presented to us with insidious onset difficulty in walking, recurrent falls, anxiety, and poor scholastic performance from age 5 years. Her MRI findings (figure) were classic of L-2-hydroxyglutaric aciduria (L2-HGA). However, similar… read more here.
Keywords: aciduria; neuroimages imaging; imaging metabolic; hydroxyglutaric aciduria ... See more keywords
Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey.
Sign Up to like & getrecommendations! Published in 2022 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202207_29302
Abstract: OBJECTIVE Organic acidurias (OAs) are a group of rare metabolic disorders that disrupt the regular amino acid metabolism. OAs are characterized by recurrent episodes of acidemia, ketonuria and hyperammonemia which can result in brain/liver damage… read more here.
Keywords: long term; aciduria; carglumic acid; use carglumic ... See more keywords