Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
Анналы клинической и экспериментальной неврологии, 2020 Glutaric aciduria type I is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the glutaryl-CoA-dehydrogenase enzyme. A lack of this enzyme leads to the accumulation of glutaric and 3-OH-glutaric (3-hydroxyglutaric) acids ...
Elena V. Saifullina +6 more
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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I [PDF]
, 2007 Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease.
Banos +30 more
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A rare inborn error of metabolism masquerading as meningitis
Medical Journal of Dr. D.Y. Patil University, 2016 We hereby describe a 7-month-old female baby, born to first-degree cousins, who was initially diagnosed as meningitis based on the features of seizures and dystonia with fever.
Madhumita Nandi +2 more
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A Rare Case of Glutaric Acidemia Type 2 With Psychosis
Amrita Journal of Medicine, 2021 Glutaric acidemia type 2 (GAII), also known as glutaric aciduria, is a rare type of inherited disorder, in which the body is unable to process certain proteins properly. Presentation can vary from mild myopathy to metabolic acidosis or cardiomyopathy, as
Praveen Arathil, Ariya Nair
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Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients [PDF]
, 2016 Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs.
Rijn, R.R. (Rick) van +5 more
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An infant with glutaric aciduria type IIc diagnosed with a novel mutation
The Turkish Journal of Pediatrics, 2017 Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases.
Sedat Işıkay +2 more
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Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience [PDF]
Journal of Clinical and Diagnostic Research, 2017 Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine.
Ankur Singh +3 more
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Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
Metabolites, 2023 Organic acidurias are a heterogeneous group of rare inherited metabolic disorders (IMDs) caused by a deficiency of an enzyme or a transport protein involved in the intermediary metabolic pathways.
Loai A. Shakerdi +4 more
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Genetic analysis and prenatal diagnosis of novel GCDH variant responsible for glutaric aciduria type Ⅰ [PDF]
Xin yixue, 2022 Objective To identify pathogenic gene variants of glutaric aciduria typeⅠ (GAⅠ) and provide reference for prenatal diagnosis of this disease. Methods Genomic DNA was extracted from the family members of a suspected case of GAⅠ. Whole exome sequencing was
Dong Xingsheng, Wang Degang, Li Zhiming, Xiong Yi, Man Tingting
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The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons [PDF]
, 2006 Multi-objective evolutionary algorithms (MOEAs) have become increasingly popular as multi-objective problem solving techniques. Most studies of MOEAs are empirical. Only recently, a few theoretical results have appeared.
Katja Brauburger +2 more
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