Glutaric Acidemia I

An autosomal recessive metabolic disorder characterized by GLIOSIS and neuronal loss in the BASAL GANGLIA, as well as a progressive movement disorder that usually begins during the first year of life. Germline mutations in the GCDH gene have been identified. OMIM: 231670

Also Known As:

Networked: 154 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Type 3 von Willebrand Disease
2.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3.	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
4.	Hemophilia A (Haemophilia)
5.	Lactic Acidosis

Experts

1.	Wajner, Moacir: 30 articles (01/2022 - 05/2002)
2.	Hoffmann, G F: 12 articles (01/2004 - 01/2000)
3.	Kölker, S: 11 articles (01/2004 - 01/2000)
4.	Woontner, Michael: 10 articles (01/2022 - 02/2002)
5.	Seminotti, Bianca: 9 articles (01/2022 - 06/2010)
6.	Leipnitz, Guilhian: 9 articles (11/2019 - 01/2007)
7.	Fighera, Michele Rechia: 7 articles (12/2020 - 06/2006)
8.	Olivera-Bravo, Silvia: 7 articles (11/2019 - 01/2011)
9.	Barbeito, Luis: 7 articles (01/2019 - 12/2008)
10.	Goodman, Stephen I: 7 articles (01/2019 - 02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glutaric Acidemia I:

1.	acylcarnitineIBA 01/01/2021 - "Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate. " 09/01/2009 - "Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS)." 08/01/1995 - "Using electrospray/tandem mass spectrometry, we analyzed for acylcarnitine postmortem bile specimens from two infants with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, one infant with glutaryl-CoA dehydrogenase deficiency, and 17 uninformative SIDS cases as controls. " 05/01/2012 - "Glutaric acidemia type I (GA1) is associated with elevated glutarylcarnitine (C5DC), typically measured as its butylester by acylcarnitine profile analysis using tandem mass spectrometry (MS/MS) and the precursor-product ion pair of m/z 388-85. "
2.	AcidsIBA 11/01/2020 - "Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. " 01/01/2017 - "The patient exhibited clinical features and MRI findings compatible with a diagnosis of GA I. The abnormal elevation of organic acids in the urine supported the presence of glutaryl-CoA dehydrogenase deficiency. " 11/14/2015 - "Glutaric acidemia type I (GAI), an inherited neurometabolic disorder characterized by accumulation of glutaric (GA) and 3-hydroxyglutaric acids, shows a paradigmatic postnatal neuropathology characterized by massive degeneration of neurons in the striatum. " 10/01/2007 - "Glutaryl-CoA dehydrogenase deficiency (GDD) is an autosomal recessive disease characterized by the accumulation of glutaric and 3-hydroxyglutaric acids in tissues and body fluids. " 05/01/2006 - "Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency."
3.	glutaric acidIBA 02/21/2003 - "This study investigated the effects of glutaric acid, which predominantly accumulates in glutaric acidemia type I, on some in vitro parameters of oxidative stress in brain of young rats. " 06/01/2000 - "The present study investigated the effects of glutaric acid (GA), which predominantly accumulates in glutaric acidemia type I (GA-I), on some in vitro parameters of energy metabolism in cerebral cortex of rats. " 05/01/2023 - "Ultrastructural features of striatal white matter and cells in an in vivo model of glutaric acidemia type I created by intracerebral injection of glutaric acid (GA) were analyzed by transmission electron microscopy and immunohistochemistry. " 11/01/2019 - "Glutaric acidemia I (GA-I) is an inherited neurometabolic childhood disease characterized by bilateral striatal neurodegeneration upon brain accumulation of millimolar concentrations of glutaric acid (GA) and related metabolites. " 12/01/2005 - "Glutaric acidemia type I is an inherited metabolic disorder biochemically characterized by tissue accumulation of predominantly glutaric acid (GA). "
4.	PropionatesIBA 01/01/1993 - "Studies of organic acids in CSF and plasma samples are presented from patients with 'cerebral' lactic acidosis, disorders of propionate and methylmalonate metabolism, glutaryl-CoA dehydrogenase deficiency and L-2-hydroxy-glutaric aciduria. " 11/12/2015 - "Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias." 12/03/2015 - "The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes."
5.	Glutamic Acid (Glutamate)FDA Link 09/01/2007 - "(1) In the present study we determined the effects of glutaric (GA, 0.01-1 mM) and 3-hydroxyglutaric (3-OHGA, 1.0-100 microM) acids, the major metabolites accumulating in glutaric acidemia type I (GA I), on Na(+)-independent and Na(+)-dependent [(3)H]glutamate binding to synaptic plasma membranes from cerebral cortex and striatum of rats aged 7, 15 and 60 days. " 02/15/2000 - "The results indicate that the inhibition of both glutamate uptake into synaptosomes and glutamate binding to plasma synaptic membranes by the metabolite could result in elevated concentrations of the excitatory neurotransmitter in the synaptic cleft, potentially causing excitotoxicity to neural cells, a fact that may be related to the brain damage characteristic of glutaric acidemia type I."
6.	Immunoglobulin M (IgM)IBA 01/01/2022 - "The fetal mutations in 17 families with different types of monogenic disorders including hemophilia A, von Willebrand disease type 3, Duchenne muscular dystrophy, hyper-IgM type 1, glutaric acidemia type I, Nagashima-type palmoplantar keratosis, and familial exudative vitreoretinopathy were identified in the study. "
7.	Glutaryl-CoA DehydrogenaseIBA 08/24/2023 - "Glutaric acidemia type 1 (GA1) is a neurotoxic metabolic disorder due to glutaryl-CoA dehydrogenase (GCDH) deficiency. " 08/24/2023 - "Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1." 05/01/2022 - "Glutaric acidemia type 1 (GA1) is a treatable neurometabolic disorder caused by biallelic variants in the glutaryl-CoA dehydrogenase (GCDH) gene. " 09/01/2021 - "A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1." 01/01/2019 - "Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). "
8.	Lysine (L-Lysine)FDA Link 01/01/2004 - "Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency." 10/01/2019 - "Glutaric acidemia type I (GA I) is a neurometabolic disorder of lysine (Lys) catabolism caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. " 09/01/2011 - "Striatal degeneration from glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1, GA1) is associated with cerebral formation and entrapment of glutaryl-CoA and its derivatives that depend on cerebral lysine influx. " 02/01/1994 - "Glutaric acidemia type I is a rare, autosomal recessive, inborn error of lysine and tryptophan metabolism. " 11/01/2007 - "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. "
9.	Tryptophan (L-Tryptophan)FDA Link 02/01/1994 - "Glutaric acidemia type I is a rare, autosomal recessive, inborn error of lysine and tryptophan metabolism. " 11/01/2007 - "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. " 02/01/1994 - "We suggest that dietary restriction of lysine and tryptophan is a safe and potentially effective therapy for individuals with glutaric acidemia type I." 02/01/2007 - "Growing evidence indicates that some metabolites derived from the kynurenine pathway, the major route of L-tryptophan catabolism, are involved in the neurotoxicity associated with several brain disorders, such as Huntington's disease, Parkinson's disease and Alzheimer's disease, as well as in glutaryl-CoA dehydrogenase deficiency (GAI). " 03/01/2021 - "The latter is hitherto undescribed and is indicative of a potential diagnosis of glutaric aciduria type 1 (alternatively glutaric acidemia type 1) (GA-1), an autosomal recessive disorder of mitochondrial lysine/hydroxylysine and tryptophan metabolism. "
10.	EnzymesIBA 01/01/2023 - "Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). " 01/01/2020 - "Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl CoA dehydrogenase (GCDH). " 11/01/2000 - "Glutaric acidemia type I is caused by mutations of the glutaryl-CoA dehydrogenase (GCDH) gene resulting in loss of GCDH enzyme activity. " 01/01/1998 - "Glutaric acidemia type I (GA1) is caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCD). " 11/01/1996 - "Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish."

Therapies and Procedures

1.	Therapeutics 02/01/2018 - "Early diagnosis and therapy of glutaric acidemia type 1 can reduce the risk of neuronal damage and acute dystonia. " 01/01/1993 - "[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)]." 01/01/1993 - "For example, in glutaryl-CoA dehydrogenase deficiency the urinary excretion of glutarate appears to be an inadequate parameter for monitoring the effect of dietary therapy, without plasma and CSF determinations. " 02/01/1994 - "We suggest that dietary restriction of lysine and tryptophan is a safe and potentially effective therapy for individuals with glutaric acidemia type I." 01/01/2004 - "Treatment in glutaryl-CoA dehydrogenase deficiency, an inborn error of metabolism of lysine and tryptophan, is mainly based on restriction of lysine intake, supplementation of carnitine, and an intensification of therapy during intercurrent illnesses. "
2.	Role Playing (Playing, Role) 01/01/2018 - "Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. "
3.	Emergency Treatment 01/01/2004 - "Emergency treatment in glutaryl-CoA dehydrogenase deficiency."
4.	Diet Therapy (Therapy, Diet) 02/01/1994 - "We suggest that dietary restriction of lysine and tryptophan is a safe and potentially effective therapy for individuals with glutaric acidemia type I."
5.	Aftercare (After-Treatment) 05/01/2015 - "After treatment in children who were diagnosed IMD, the well controlled epileptic seizures and the satisfactory developments in mental and motor were found in 4 cases of methylmalonic acidemia, 2 cases of classical phenylketonuria, and one case of biotin deficiency disease, glutaric acidemia type I, and 4-hydroxybutyric aciduria in each. "