Mutation analysis in glutaric aciduria type I [PDF]
Journal of Medical Genetics, 2000 Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large ...
Johannes Zschocke +3 more
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Anales de Pediatría (English Edition)Introduction: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015–2019) of the AGA1 neonatal screening programme in ...
Ana Isabel Elola Pastor +2 more
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Lysine α-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases [PDF]
Frontiers in Molecular NeuroscienceThe saccharopine pathway (SacPath) and the pipecolate pathway (PipPath) catabolize lysine to α-aminoadipate. Although the PipPath has been highlighted as the prominent route operating in the brain, recent work has demonstrated that the SacPath plays a ...
Gabriel Vieira Valderrama +6 more
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Remimazolam Anesthesia for a Pediatric Patient With Glutaric Aciduria Type I: A Case Report. [PDF]
CureusTsuruno T +4 more
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Neurophysiologic features in glutaric aciduria type I
The Turkish Journal of Pediatrics, 2005 Neurophysiologic abnormalities are frequently seen in organic acidemias, but knowledge of the specific changes in the different types of organic acidemias is lacking.
Dilek Yalnizoğlu +4 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
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Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases. [PDF]
Exp Ther Med, 2017 Zhang X, Luo Q.
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Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients. [PDF]
Int J Mol Sci, 2020 Ribeiro JV, Gomes CM, Henriques BJ.
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Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy.
J Pediatr Neurosci, 2017 Sarangi PK +3 more
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Case report: glutaric aciduria type I [PDF]
Arquivos de Neuro-PsiquiatriaAndrea Sayuri Murata +6 more
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