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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

PW000066

Pw000066 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: WishartLab

Created On: August 01, 2013 at 15:52

Last Updated: August 01, 2013 at 15:52

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

PW121918

Pw121918 View Pathway
disease

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

Rattus norvegicus
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I also called 3-MCC Deficiency is a rare inborn error of metabolism (IEM) and is the result of defective pair of genes. More specifically defects in genes MCCC1 and MCCC2 cause 3-MCC Deficiency. 3-MCC has a very important role in protein metabolism in the body. In particular, the said enzyme is pivotal in one of the many steps which constitute the breakdown of leucine. Mutations in the aforementioned genes leads to a reduction in the activity of 3-MCC. As would naturally be expected, this causes the body to be unable to uptake and breakdown leucine properly. Consequently, this leads to the build up of toxic byproducts which are not processed as the breakdown of leucine is left incomplete. If these toxic byproducts manifest themselves in sufficiently high levels they can be very harmful, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
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

PW121692

Pw121692 View Pathway
disease

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

Mus musculus
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I also called 3-MCC Deficiency is a rare inborn error of metabolism (IEM) and is the result of defective pair of genes. More specifically defects in genes MCCC1 and MCCC2 cause 3-MCC Deficiency. 3-MCC has a very important role in protein metabolism in the body. In particular, the said enzyme is pivotal in one of the many steps which constitute the breakdown of leucine. Mutations in the aforementioned genes leads to a reduction in the activity of 3-MCC. As would naturally be expected, this causes the body to be unable to uptake and breakdown leucine properly. Consequently, this leads to the build up of toxic byproducts which are not processed as the breakdown of leucine is left incomplete. If these toxic byproducts manifest themselves in sufficiently high levels they can be very harmful, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
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

PW127227

Pw127227 View Pathway
disease

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

Homo sapiens
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I also called 3-MCC Deficiency is a rare inborn error of metabolism (IEM) and is the result of defective pair of genes. More specifically defects in genes MCCC1 and MCCC2 cause 3-MCC Deficiency. 3-MCC has a very important role in protein metabolism in the body. In particular, the said enzyme is pivotal in one of the many steps which constitute the breakdown of leucine. Mutations in the aforementioned genes leads to a reduction in the activity of 3-MCC. As would naturally be expected, this causes the body to be unable to uptake and breakdown leucine properly. Consequently, this leads to the build up of toxic byproducts which are not processed as the breakdown of leucine is left incomplete. If these toxic byproducts manifest themselves in sufficiently high levels they can be very harmful, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
BioPAX SVG SBGN SBML PWML All files (.zip)

Creator: Ray Kruger

Created On: November 15, 2022 at 15:42

Last Updated: November 15, 2022 at 15:42

PW000065

Pw000065 View Pathway
disease

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

Homo sapiens
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I also called 3-MCC Deficiency is a rare inborn error of metabolism (IEM) and is the result of defective pair of genes. More specifically defects in genes MCCC1 and MCCC2 cause 3-MCC Deficiency. 3-MCC has a very important role in protein metabolism in the body. In particular, the said enzyme is pivotal in one of the many steps which constitute the breakdown of leucine. Mutations in the aforementioned genes leads to a reduction in the activity of 3-MCC. As would naturally be expected, this causes the body to be unable to uptake and breakdown leucine properly. Consequently, this leads to the build up of toxic byproducts which are not processed as the breakdown of leucine is left incomplete. If these toxic byproducts manifest themselves in sufficiently high levels they can be very harmful, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.
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