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Showing 11 - 20 of 49833 pathways
SMPDB ID Pathway Chemical Compounds Proteins


Pw000697 View Pathway

27-Hydroxylase Deficiency

Sterol 27-hydroxylase is a mitochondrial cytochrome P-450 species (CYP27) that catalyzes the first step in the degradation of steroid side chain in cholesterol to produce bile acids in the liver. When there are low concentrations of 27-Hydroxylase, patients will exhibit cerebrotendinous xanthomatosis, an autosomal recessive disorder characterized by the accumulation of cholestanol and cholesterol due to the inability to break down the lipids. The formation of xanthomas (deposits of lipids) in the nervous system and tendons will cause symptoms such as dementia, ataxia, and cataracts. Other symptoms may include damaged liver cells and body tissues.


Pw000695 View Pathway

3-beta-Hydroxysteroid Dehydrogenase Deficiency

3-beta-hydroxysteroid dehydrogenase (HSD) deficiency is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by an defect in the HSD3B2 gene which encodes for the 3 beta-hydroxysteroid dehydrogenase enzyme, which is responsible for forming cortisol from 11b,17a,21-trihydroxypregnenolone. When the enzyme is not correctly produced, cortisol levels in the cell are lowered, and as cortisol is used in the production of other steroids, it may affect their levels as well. 3-beta-HSD deficiency is characterized by low levels of cortisol produced in the adrenal glands. Symptoms include abnormal genitalia for both males and females, as well as infertility. There is also a more severe salt-wasting form of this deficiency, characterized by dehydration. Treatment for 3-beta-HSD deficiency includes steroid replacement, as well as sex hormone replacement during puberty to allow proper development. Surgery can also be used to correct any genital abnormalities that may occur. It is estimated that 3-beta-HSD deficiency affects less than 1 in 1,000,000 individuals, with around 60 cases reported.


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 acid dehydrogenase deficiency (3-hydroxyisobutyric aciduria) is an extremely rare inborn error of metabolism (IEM), potentially caused by numerous mechanisms. It is currently thought to be autosomal recessively inherited. At least two cases of 3-hydroxyisobutyric aciduria were determined to be caused by a mutation in the ALDH6A1 gene, which encodes acylating methylmalonate-semialdehyde dehydrogenase. This enzyme converts 2-methyl-3-oxopropanoate, CoA and water into propanoyl-CoA, using NAD+ as an oxidizing agent, and producing a hydrogen ion and hydrogencarbonate as byproducts. Other forms of 3-hydroxyisobutyric aciduria may be caused by a mutation in the gene encoding 3-hydroxyisobutyrate dehydrogenase, which forms (S)-methylmalonic acid semialdehyde from (S)-3-hydroxyisobutyric acid. This mutation leads to an accumulation of (S)-3-hydroxyisobutyric acid, as no other processes in the pathway use it. 3-hydroxyisobutyric aciduria is characterized by elevated levels of 3-hydroxyisobutyric acid excreted in the urine. Symptoms of the disorder include dysmorphic features, developmental delays and intellectual disabilities. Treatments are not currently well researched due to the rarity of the condition, but protein-restricted diets may be helpful. It is estimated that 3-hydroxyisobutyric aciduria affects less than 1 in 1,000,000 people, with only 12 cases having been reported by 2006.


Pw000498 View Pathway

3-Hydroxyisobutyric Aciduria

3-Hydroxyisobutyric aciduria, also called HIBA, is an extremely rare inherited inborn error of metabolism (IEM) of valine metabolism. Only 12-13 patients have been identified with this condition. It is an autosomal recessive disorder that may be caused, in some cases, by a defective aldehyde dehydrogenase 6 family member A1 (ALDH6A1) gene which codes for methylmalonate semialdehyde dehydrogenase (MMSDH). MMSDH is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolism. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Another possible cause of the disorder is a mutation in 3-hydroxyisobutyrate dehydrogenase, a mitochondrial enzyme which catalyzes the conversion of 3-hydroxyisobutyrate into methylmalonic semialdehyde, or in the conversion of the semialdehyde to propionyl-CoA. Individuals with this disorder have very high levels of 3-hydroxyisobutyric acid secreted in their urine. Other indications of organic acidemia are also present. Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, dysmorphic facial features, and brain abnormalities. The excretion of 3-hydroxyisobutyric acid in the urine can range from 170 to 390 mmol/mol of creatinine. Concentrations of free carnitine are also low, and esterified carnitine can be elevated in patients. Protein-restricted diets and carnitine supplementation have been tried with varying degrees of success.


Pw000065 View Pathway

3-Methylcrotonyl-CoA Carboxylase Deficiency Type I

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 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, 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.


Pw000656 View Pathway
Drug Action

3-Methylthiofentanyl Action Pathway

Methadyl Acetate (also known as Acetylmethadol) is analgesic that can bind to mu-type opioid receptor to activate associated G-protein in the sensory neurons of central nervous system (CNS), which will reduce the level of intracellular cAMP by inhibiting adenylate cyclase. The binding of methadyl acetate will eventually lead to reduced pain because of decreased nerve conduction and release of neurotransmitter. Hyperpolarization of neuron is caused by inactivation of calcium channels and activation of potassium channels via facilitated by G-protein.
Showing 11 - 20 of 49833 pathways