Pathways

PathWhiz ID Pathway Meta Data

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.