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PW127229

Pw127229 View Pathway
disease

3-Methylglutaconic Aciduria Type I

Homo sapiens
3-Methylglutaconic aciduria type 1 (3-Methylglutaconicaciduria; Aciduria, 3-methylglutaconic type I) is an autosomal recessive disease caused by a mutation in the AUH gene which codes for methylglutaconyl-CoA hydratase. A deficiency in this enzyme results in accumulation of 3-hydroxyisovaleric acid, 3-methylglutaconic acid, and methylglutaric acid in urine. Symptoms include hypoglycemia, low birth weight, coma, seizures, and mental retardation. Treatment includes a low protein diet.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: November 16, 2022 at 10:22

Last Updated: November 16, 2022 at 10:22

PW121919

Pw121919 View Pathway
disease

3-Methylglutaconic Aciduria Type I

Rattus norvegicus
3-Methylglutaconic aciduria type 1 (3-Methylglutaconicaciduria; Aciduria, 3-methylglutaconic type I) is an autosomal recessive disease caused by a mutation in the AUH gene which codes for methylglutaconyl-CoA hydratase. A deficiency in this enzyme results in accumulation of 3-hydroxyisovaleric acid, 3-methylglutaconic acid, and methylglutaric acid in urine. Symptoms include hypoglycemia, low birth weight, coma, seizures, and mental retardation. Treatment includes a low protein diet.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:51

Last Updated: September 10, 2018 at 15:51

PW121693

Pw121693 View Pathway
disease

3-Methylglutaconic Aciduria Type I

Mus musculus
3-Methylglutaconic aciduria type 1 (3-Methylglutaconicaciduria; Aciduria, 3-methylglutaconic type I) is an autosomal recessive disease caused by a mutation in the AUH gene which codes for methylglutaconyl-CoA hydratase. A deficiency in this enzyme results in accumulation of 3-hydroxyisovaleric acid, 3-methylglutaconic acid, and methylglutaric acid in urine. Symptoms include hypoglycemia, low birth weight, coma, seizures, and mental retardation. Treatment includes a low protein diet.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:49

Last Updated: September 10, 2018 at 15:49

PW121694

Pw121694 View Pathway
disease

3-Methylglutaconic Aciduria Type III

Mus musculus
3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein. A deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:49

Last Updated: September 10, 2018 at 15:49

PW000067

Pw000067 View Pathway
disease

3-Methylglutaconic Aciduria Type III

Homo sapiens
3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein. A deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: WishartLab

Created On: August 01, 2013 at 15:52

Last Updated: August 01, 2013 at 15:52

PW127232

Pw127232 View Pathway
disease

3-Methylglutaconic Aciduria Type III

Homo sapiens
3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein. A deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: November 16, 2022 at 16:11

Last Updated: November 16, 2022 at 16:11

PW121920

Pw121920 View Pathway
disease

3-Methylglutaconic Aciduria Type III

Rattus norvegicus
3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein. A deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:51

Last Updated: September 10, 2018 at 15:51

PW121695

Pw121695 View Pathway
disease

3-Methylglutaconic Aciduria Type IV

Mus musculus
3-Methylglutaconic Aciduria Type IV, also called MGA, Type IV and MGA4, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective methylglutaconyl-CoA hydratase. Methylglutaconyl-CoA hydratase catalyzes the conversion of 3-Methylglutaconyl-CoA into 3-Hydroxy-3-methylglutaryl-CoA which is the substrate of hydroxymethylglutaryl-CoA lyase. This disorder is characterized by increased urinary excretion of 3-methylglutaconic acid. Symptoms of the disorder include poor growth and neurological degression. Currently, there is no effective treatment for 3-MGA type IV.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ana Marcu

Created On: September 10, 2018 at 15:49

Last Updated: September 10, 2018 at 15:49

PW000214

Pw000214 View Pathway
disease

3-Methylglutaconic Aciduria Type IV

Homo sapiens
3-Methylglutaconic Aciduria Type IV, also called MGA, Type IV and MGA4, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective methylglutaconyl-CoA hydratase. Methylglutaconyl-CoA hydratase catalyzes the conversion of 3-Methylglutaconyl-CoA into 3-Hydroxy-3-methylglutaryl-CoA which is the substrate of hydroxymethylglutaryl-CoA lyase. This disorder is characterized by increased urinary excretion of 3-methylglutaconic acid. Symptoms of the disorder include poor growth and neurological degression. Currently, there is no effective treatment for 3-MGA type IV.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: WishartLab

Created On: August 20, 2013 at 13:35

Last Updated: August 20, 2013 at 13:35

PW127237

Pw127237 View Pathway
disease

3-Methylglutaconic Aciduria Type IV

Homo sapiens
3-Methylglutaconic Aciduria Type IV, also called MGA, Type IV and MGA4, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective methylglutaconyl-CoA hydratase. Methylglutaconyl-CoA hydratase catalyzes the conversion of 3-Methylglutaconyl-CoA into 3-Hydroxy-3-methylglutaryl-CoA which is the substrate of hydroxymethylglutaryl-CoA lyase. This disorder is characterized by increased urinary excretion of 3-methylglutaconic acid. Symptoms of the disorder include poor growth and neurological degression. Currently, there is no effective treatment for 3-MGA type IV.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: November 18, 2022 at 13:03

Last Updated: November 18, 2022 at 13:03