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Showing 49821 - 49830 of 49833 pathways
SMPDB ID Pathway Chemical Compounds Proteins

SMP0000138

Pw000063 View Pathway
Disease

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.

SMP0000718

Pw000695 View Pathway
Disease

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.

SMP0000720

Pw000697 View Pathway
Disease

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.

SMP0000576

Pw000552 View Pathway
Disease

21-Hydroxylase Deficiency (CYP21)

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the steps of biosynthesis of cortisol from cholesterol in the adrenal glands, also known as steroidogenesis. 21-hydroxylase deficiency, also known as CYP21 deficiency or CAH1, is an autosomal recessive disorder that accounts for the vast majority of cases of CAH. This deficiency affects cells in the adrenal cortex of the adrenal glands, and due to the deficiency in an enzyme used in many pathways. This prevents the completion of several hormone biosynthesis pathways, including those producing aldosterone and cortisol, and leads to a buildup of their precursors, including 17a-hydroxypregnenolone, which are then processed by the pathways that produce androgen hormones including testosterone. This disorder can vary in severity, depending on the amount of functional enzyme present. The most severe form is known as the salt-wasting form of 21-hydroxylase, and is caused by a complete lack of functional enzyme. This form is called the salt-wasting form, as the lack of aldosterone produced leads to high levels of sodium excreted in the urine, causing infant blood volume to decrease. High potassium levels in blood are also often observed, but if properly diagnosed, saline solution and hydrocortisone can restore normal blood levels and sodium content. In addition, males are typically visually unaffected, but females often possess ambiguous genitalia due to the excess exposure to testosterone during development. The second most severe form is known as the simple virilising form, which does not involve the salt loss of the salt-wasting form, due to a partially functional 21-hydroxylase enzyme. However, the androgen hormones build up similarly, leading to females with some amount of virilisation, or some amount of male characteristics, including ambiguous genitalia. The third and least severe form, known as the non-classical or late onset form, has the highest function in 21-hydroxylase enzymes, and leads to the smallest buildup of androgen hormones. This means that females exhibit little to no virilisation at birth, but as they age can experience male-associated hair growth and baldness, as well as decreased fertility and menstruation irregularities. It can also lead to an early puberty in both males and females, though treatment can help prevent this if it is caught in time.

SMP0000137

Pw000061 View Pathway
Disease

2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency

2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (Hydroxyl-CoA dehydrogenase deficiency; MHBD) is a rare inborn disease of metabolism caused by a mutation in the HSD17B10 gene which codes for 3-hydroxyacyl-CoA dehydrogenase type-2. A deficiency in this enzyme results in accumulation of L-lactic acid in blood, spinal fluid, and urine; 2-ethylhydracrylic acid, 2-methyl-3-hydroxybutyric acid, and tiglylglycine in urine. Symptoms include cerebal atrophy, motor and mental retardation, overactivity and behavior issues, seizures and progressive neurological defects leading to early death. Treatment includes a high carbohydrate and low protein diet.

SMP0000549

Pw000525 View Pathway
Disease

2-Ketoglutarate Dehydrogenase Complex Deficiency

2-Ketoglutarate dehydrogenase complex deficiency, also known as alpha-ketoglutarate dehydrogenase deficiency or oxoglutaric aciduria, is an autosomal recessive disorder of the Krebs cycle caused by a defective oxoglutarate dehydrogenase complex (OGDC). OGDC catalyzes the conversion of 2-ketoglutarate into succinyl-CoA. This disorder is characterized by a large accumulation of 2-ketoglutarate in the urine. Symptoms of the disorder include opisthotonus, ataxia, developmental delay, and seizures.

SMP0000136

Pw000212 View Pathway
Disease

2-Hydroxyglutric Aciduria (D and L Form)

L-2-Hydroxyglutaric Aciduria (D-2-Hydroxyglutaric Aciduria ) is an autosomal recessive disease caused by a mutation in the L2HGDH gene which codes for L-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of L-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; and L-lysine in plasma and spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. D-2-Hydroxyglutaric Aciduria is an autosomal recessive disease caused by a mutation in the D2HGDH gene which does for D-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of D-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; oxoglutaric acid in urine; and gabba-aminobutyric acid in spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results.

SMP0000719

Pw000696 View Pathway
Disease

2-Aminoadipic 2-Oxoadipic Aciduria

2-Aminoadipic 2-oxoadipic aciduria is a disorder of lysine metabolism caused by a defective DHTKD1 gene. DHTKD1 is predicted to code for a component of a supercomplex similar to the 2-oxoglutarate dehydrogenase complex (OGDHc) which catalyzes the conversion of 2-oxoadipate into glutaryl-CoA. This disease is characterized by a large accumulation of 2-oxoadipate and 2-hydroxyadipate in the urine. Symptoms of the disease include mild to severe intellectual disability, developmental delay, ataxia, muscular hypotonia, and epilepsy. However, most cases are asymptomatic.

SMP0121131

Pw122411 View Pathway
Metabolic

2-Amino-3-Carboxymuconate Semialdehyde Degradation

This pathway is part of a major route of the degradation of L-tryptophan. It begins with 2-amino-3-carboxymuconate-6-semialdehyde which is generated from L-tryptophan degradation. The 2-amino-3-carboxymuconate-6-semialdehyde first is acted upon by a decarboxylase, forming 2-aminomuconic acid semialdehyde, which is then dehydrogenated by 2-aminomuconic semialdehyde dehydrogenase to form 2-aminomuconic acid. An unknown protein forms a 2-aminomuconate deaminase which forms (3E)-2-oxohex-3-enedioate, and a second unknown protein forms a 2-aminomuconate reductase, which forms oxoadipic acid from (3E)-2-oxohex-3-enedioate. Finally, within the mitochondria, oxoadipic acid is dehydrogenated and a coenzyme A is attached by the organelle’s oxoglutarate dehydrogenase complex, forming glutaryl-CoA. Glutaryl-CoA can then be further degraded.

SMP0000356

Pw000059 View Pathway
Disease

17-beta Hydroxysteroid Dehydrogenase III Deficiency

17-beta hydroxysteroid dehydrogenase III deficiency, also known as 17-KSR deficiency or male pseudohermaphroditism with gynecomastia (MPH), is as rare inborn error of metabolism (IEM) and autosomal recessive disorder of the androgen and estrogen metabolism pathway. It is caused by a mutation in the HSD17B3 gene, which encodes the enzyme testosterone 17-beta-dehydrogenase 3, which is responsible for catalyzing the reversible formation of androstenedione from testosterone. This leads to an accumulation of androstenedione and dehydroepiandrosterone in the body, as well as a lack of testosterone produced. 17-KSR deficiency is characterized by an absence of testosterone in the testis until puberty, where testosterone is produced outside of the gonads. Symptoms include infertility and external female genitalia until puberty, when secondary male sex characteristics occur, as well as gynecomastia. Due to this, many individuals with this disorder are raised as female despite being genetically male, until puberty. Treatment can include removal of testes before puberty, preventing any masculinization at puberty, as well as surgical treatment of genitalia. However, there is no known treatment for restoring the fertility of affected individuals. It is estimated that 17-KSR deficiency affects 1 in 150,000 individuals in The Netherlands, without much information for the rest of the world.
Showing 49821 - 49830 of 49833 pathways