The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study [PDF]
, 2021 The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany.
Baumgartner, Matthias R. +23 more
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Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model. [PDF]
PLoS ONE, 2014 Acute neurological crises involving striatal degeneration induced by a deficiency of glutaryl-CoA dehydrogenase (GCDH) and the accumulation of glutaric (GA) and 3-hydroxyglutaric acid (3-OHGA) are considered to be the most striking features of glutaric ...
Xi Fu +7 more
doaj +1 more source
Hallazgos neurorradiológicos de la Acidosis Glutárica tipo I [PDF]
, 2007 Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in
Garcia-de-Eulate, R. (Reyes) +4 more
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L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier [PDF]
, 2014 L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia.
Henriette van der Zwan +3 more
core +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution [PDF]
, 2018 The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a ...
Superti-Furga, Andrea
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Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]
, 2013 Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano +3 more
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A Case of Glutaric Aciduria Type I with a Novel Mutation
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal +4 more
doaj
Inherited metabolic disorders in Cyprus
Molecular Genetics and Metabolism ReportsSelective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%).
Theodoros Georgiou +17 more
doaj +1 more source