Results 171 to 180 of about 12,812 (223)

Glutaric aciduria Type II

The Journal of Pediatrics, 1980
Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwhelming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristic.
L, Sweetman, W L, Nyhan, D A, Tauner, T A, Merritt, M, Singh   +4 more
openaire   +2 more sources

Acute Flaccid Paralysis in Infancy: A Rare Presentation of Glutaric Aciduria Type I

International journal of medical science and health research
Glutaric aciduria type I (GA1) is a rare autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, disturbing lysine, hydroxylysine, and tryptophan metabolism [1].
Amal Prazad, Aswathy Mathews
semanticscholar   +1 more source

Clinical Spectrum, Neuroimaging, Dietary Management, and Outcomes in Glutaric Aciduria Type I: A Case Series from a Tertiary Metabolic Centre in India

Journal of Multidisciplinary Research in Healthcare
Background: Glutaric aciduria type I (GA1) is a rare autosomal recessive neurometabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase, leading to the accumulation of glutaric acid, 3-hydroxyglutaric acid, and glutarylcarnitine.
Garvita Kharbanda, Sirimavo Nair, Priyanshu Mathur   +2 more
semanticscholar   +1 more source

Glutaric Aciduria Type 1

RadioGraphics, 2023
Antariksh Vijan, Parisa Khoshpouri, Alexandra N. Murphy, Foram Gala   +3 more
  +5 more sources

Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-1) is an autosomal recessive neurometabolic disorder characterised by the accumulation of toxic metabolites due to Glutaryl-CoA Dehydrogenase (GCDH) deficiency, leading to striatal damage and neurodegeneration.
Parth Nikhil Doshi, Kunal Solanki, Ashutosh Patel, Prerna Jain   +3 more
semanticscholar   +1 more source

Odd‐Chain Dicarboxylic Acid Feeding Produces a Glutaric Aciduria Type 1–Like Metabolic Signature in Mice

The FASEB Journal
Glutaric aciduria type‐1 (GA1) is an inherited mitochondrial neurometabolic disorder with a poorly understood pathogenesis and unmet medical needs.
Adam C. Richert, Yuxun Zhang, Sivakama S Bharathi, Abigail Hernandez, Tetyana Dodatko, J. Bons, Kayla E Roundtree, Brandon Stauffer, Chunli Yu, Birgit Schilling, Sander M. Houten, Eric S. Goetzman   +11 more
semanticscholar   +1 more source

Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review

Journal of Inherited Metabolic Disease, 2023
Glutaric aciduria type 1 (GA1) is an autosomal recessive disease frequently leading to dystonia. Deep brain stimulation (DBS), intrathecal baclofen (ITB), and intraventricular baclofen (IVB) are the current interventional treatment options for refractory
N. Shlobin, Katherine M Hofmann, R. Keating, C. Oluigbo   +3 more
semanticscholar   +1 more source

Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria

BMJ Case Reports
A female infant presented with recurrent generalised tonic-clonic seizures, persistent upward gaze and a prolonged postictal phase. Clinical examination revealed macrocephaly and global developmental delay. Laboratory investigations demonstrated profound
Barath Gr, Arvinder Wander, Saransh Gupta, Shivani Sidana   +3 more
semanticscholar   +1 more source

Glutaric aciduria type 1

2013
Clinical History: An 11-month-old child presented to the ER with fever, seizure, dystonia and quadriparesis. On initial examination the patient was dehydrated, hypotonic and had normal cranial size (normocephalic). Her mother reported a history of an attack of gastroenteri...
openaire   +1 more source