Acta Médica PortuguesaGlutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces.
Lúcia Marques +4 more
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Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management
Annals of Indian Academy of Neurology, 2021 Introduction: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase.
Leema P Cornelius +2 more
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Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey [PDF]
Molecular Genetics and Metabolism Reports, 2023 Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders.
Ayse Ergül Bozaci +8 more
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Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report [PDF]
BMC Pediatrics, 2021 Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska +5 more
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Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1. [PDF]
JIMD RepGlutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG).
Cyr D, Boutin M, Maranda B, Waters PJ.
europepmc +2 more sources
Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings [PDF]
Radiology Case ReportsGlutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited
Pradeep Raj Regmi, MD +4 more
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Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1. [PDF]
Int J Neonatal ScreenGlutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum of individuals with GA1 and the lack of reliable second-tier strategies ...
Zaunseder E +9 more
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Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report. [PDF]
CureusGlutaric aciduria type 1 (GA1) is an organic aciduria inherited in an autosomal recessive pattern, with an occurrence rate of one in 100,000. It is caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene on ...
Patil MG +3 more
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Long-Term Outcomes of GPi Deep Brain Stimulation in a Child with Glutaric Aciduria Type 1 (GA1). [PDF]
Mov Disord Clin PractGlutaric aciduria type 1 (GA1) is a rare neurometabolic disorder that is inherited in an autosomal recessive manner. It is caused by a de fi ciency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH), which converts glutaryl-CoA to crotonyl-CoA ...
Chacón A +6 more
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Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II. [PDF]
Children (Basel)Background: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages.
Kek HP +4 more
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