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Showing 11 - 20 of 48688 pathways
SMPDB ID Pathway Chemical Compounds Proteins


Pw000063 View Pathway

3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-Hydroxy-3-methylglutaric acidemia; Leucine metabolism, defect in, HMG-CoA lyase deficiency) is an autosomal recessive disease caused by a mutation in the HMGCL gene which codes for hydroxymethylglutaryl-CoA lyase. A deficiency in this enzyme results in accumulation of 3-hydroxymethylglutaric acid, 3-hydroxyisovaleric acid, 3-methylcrotonylglycine and 3-methylglutaconic acid (cis and trans form), and methylglutaric acid in urine; and ammonia in blood. Symptoms include cardiomyopathy, dehydration, hypotonia, lactic acidosis, and pancreatitis. Treatment includes a low-fat, low-protein, high-carbohydrate diet.


Pw000497 View Pathway

3-Hydroxyisobutyric Acid Dehydrogenase Deficiency

3-Hydroxyisobutyric aciduria (3-hydroxyisobutyric acid dehydrogenase deficiency) is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and neurodevelopmental problems in the majority of patients.


Pw000498 View Pathway

3-Hydroxyisobutyric Aciduria

3-Hydroxyisobutyric aciduria, a disorder of valine metabolism, has been found in a boy in whom the clinical picture was that of a typical organic acidemia with repeated episodes of ketoacidosis requiring admission to hospital and parenteral fluid therapy, along with impressive failure to thrive and chronic lactic acidemia. The excretion of 3-hydroxyisobutyric acid ranged from 170 to 390 mmol/mol of creatinine. The administration of valine increased this to 18,700 mmol/mol of creatinine and reproduced the clinical picture of ketoacidosis. Concentrations of free carnitine were low, and esterified carnitine was elevated. Treatment with carnitine and a diet restricted in protein appeared to be beneficial.


Pw000065 View Pathway

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I (3-MCC Deficiency; MCCD Type I; Methylcrotonylglycinuria Type I; 3-Methylcrotonylglycinuria I) is caused by a defect in the MCCC1 and MCCC2 genes. 3-methylcrotonyl-coenzyme A carboxylase plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the fourth step in processing leucine. If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system. Symptoms include recurring episodes of vomiting and diarrhea, lethargy, hypotonia, seizures, and coma.


Pw000066 View Pathway

3-Methylglutaconic Aciduria Type I

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.


Pw000067 View Pathway

3-Methylglutaconic Aciduria Type III

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 View Pathway

3-Methylglutaconic Aciduria Type IV

3-Methylglutaconic Aciduria Type IV (MGA, Type IV; MGA4) is an autosomal recessive disease caused by a mutation in an unknown gene. This disease results in an accumulation of cis and trans 3-methylglutaconic acid. Symptoms include, anemia, hyperammonemia, mental retardation, optic atrophy, hypotonia and early death.


Pw000656 View Pathway
Drug Action

3-Methylthiofentanyl Action Pathway

Methadyl Acetate exerts its analgesic by acting on the opioid receptors of sensory neurons. Binding to the opioid receptor activates associated G(i) proteins. These subsequently act to inhibit adenylate cyclase, reducing the level of intracellular cAMP. G(i) also activates potassium channels and inactivates calcium channels causing the neuron to hyperpolarize. The end result is decreased nerve conduction and reduced neurotransmitter release, which blocks the perception of pain signals.


Pw000698 View Pathway

3-Phosphoglycerate Dehydrogenase Deficiency

3-Phosphoglycerate dehydrogenase deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.The disorder is caused by homozygous or compound heterozygous or homozygous mutation in the gene encoding phosphoglycerate dehydrogenase on chromosome 1p12. Defects in the gene lead to a decrease of Glycine and Serine.


Pw000070 View Pathway

4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency

4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo proton MR also indicates elevated GABA levels as compared with an age-matched control. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.
Showing 11 - 20 of 48688 pathways