SMP0125696
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Zellweger Syndrome
Zellweger syndrome, also known as cerebrohepatorenal syndrome, is an autosomal recessive peroxisome biogenesis disorder that is part of the family of Zellweger spectrum disorders. It is caused by a defect in one of 12 or more of the PEX genes (PEX1, 2, 3, 5, 6, 10, 12, 13, 14, 16, 19 and 26) that produce proteins called peroxins. Peroxins are used in the formation of peroxisomes, and can be involved in recognition of proteins targeted for the peroxisome, as well as their transport into the peroxisome. Peroxisomes typically break down both very long chain and branched fatty acids, but if they aren't present, these fatty acids build up in the blood and body, harming organs such as the brain and liver. Additionally, due to the fact that some processes, such as plasmalogen biosynthesis, occur in or using peroxisomes, and can lead to deficiencies in plasmalogens. These are important in brain and lung function, leading to other symptoms. Zellweger syndrome is characterized by an increase in levels of very long chain fatty acids in the blood plasma, as well as more visible physical symptoms, such as an abnormally large or small head at birth, characteristic facial features and poor muscle tone, which can lead to an inability of infants to feed. Other symptoms include an enlarged liver, skeletal abnormalities and low CNS function. Infants very rarely live longer than one year, and the only treatment is for symptoms the patient is experiencing, not for the syndrome itself.
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Disease
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- (24R)-Cholest-5-ene-3-β,7-α,24...
- 24-Hydroxycholesterol
- 25-Hydroxycholesterol
- 27-Deoxy-5b-cyprinol
- 27-Hydroxycholesterol
- 3 α,7 α,24-Trihydroxy-5β-chole...
- 3 α,7 α,26-Trihydroxy-5β-chole...
- 3 β-Hydroxy-5-cholestenoate
- 3'-AMP
- 3a,7a,12a,24-Tetrahydroxy-5b-c...
- 3a,7a,12a-Trihydroxy-5b-24-oxo...
- 3a,7a,12a-Trihydroxy-5b-choles...
- 3a,7a,12a-Trihydroxy-5b-choles...
- 3a,7a-Dihydroxy-5b-cholest-24-...
- 3a,7a-Dihydroxy-5b-cholestan-2...
- 3a,7a-Dihydroxy-5b-cholestane
- 3a,7a-Dihydroxy-5b-cholestanoy...
- 3α,7α,12α-Trihydroxy-5β-choles...
- 3α,7α-Dihydroxycoprostanic aci...
- 3β,7α-Dihydroxy-5-cholestenoat...
- 5-b-Cholestane-3a ,7a ,12a-tri...
- 5b-Cyprinol sulfate
- 7 α,26-Dihydroxy-4-cholesten-3...
- 7-a,25-Dihydroxycholesterol
- 7-a,27-Dihydroxycholesterol
- 7a,12a-Dihydroxy-5b-cholestan-...
- 7a,12a-Dihydroxy-cholestene-3-...
- 7a-Hydroxy-5b-cholestan-3-one
- 7a-Hydroxy-cholestene-3-one
- 7a-Hydroxycholesterol
- 7α-Hydroxy-3-oxo-4-cholestenoa...
- Adenosine diphosphate
- Adenosine triphosphate
- CE(22:2(13Z,16Z))
- Chenodeoxycholic acid
- Chenodeoxycholic acid glycine ...
- Chenodeoxycholoyl-CoA
- Cholesterol
- Cholic acid
- Choloyl-CoA
- Coenzyme A
- Deoxycholic acid
- Deoxycholic acid glycine conju...
- FAD
- Glycine
- Glycocholic acid
- Heme
- Iron
- Lithocholic acid
- Lithocholic acid glycine conju...
- Lithocholyltaurine
- NAD
- NADH
- NADP
- NADPH
- Oxygen
- Palmitic acid
- Propionyl-CoA
- Pyrophosphate
- Taurine
- Taurochenodesoxycholic acid
- Taurocholic acid
- Taurodeoxycholic acid
- Water
- (
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SMP0000316
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Zellweger Syndrome
Zellweger syndrome, also known as cerebrohepatorenal syndrome, is an autosomal recessive peroxisome biogenesis disorder that is part of the family of Zellweger spectrum disorders. It is caused by a defect in one of 12 or more of the PEX genes (PEX1, 2, 3, 5, 6, 10, 12, 13, 14, 16, 19 and 26) that produce proteins called peroxins. Peroxins are used in the formation of peroxisomes, and can be involved in recognition of proteins targeted for the peroxisome, as well as their transport into the peroxisome. Peroxisomes typically break down both very long chain and branched fatty acids, but if they aren't present, these fatty acids build up in the blood and body, harming organs such as the brain and liver. Additionally, due to the fact that some processes, such as plasmalogen biosynthesis, occur in or using peroxisomes, and can lead to deficiencies in plasmalogens. These are important in brain and lung function, leading to other symptoms.
Zellweger syndrome is characterized by an increase in levels of very long chain fatty acids in the blood plasma, as well as more visible physical symptoms, such as an abnormally large or small head at birth, characteristic facial features and poor muscle tone, which can lead to an inability of infants to feed. Other symptoms include an enlarged liver, skeletal abnormalities and low CNS function. Infants very rarely live longer than one year, and the only treatment is for symptoms the patient is experiencing, not for the syndrome itself.
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Disease
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- (24R)-Cholest-5-ene-3-β,7-α,24...
- 24-Hydroxycholesterol
- 25-Hydroxycholesterol
- 27-Deoxy-5b-cyprinol
- 27-Hydroxycholesterol
- 3 α,7 α,24-Trihydroxy-5β-chole...
- 3 α,7 α,26-Trihydroxy-5β-chole...
- 3 β-Hydroxy-5-cholestenoate
- 3'-AMP
- 3a,7a,12a,24-Tetrahydroxy-5b-c...
- 3a,7a,12a-Trihydroxy-5b-24-oxo...
- 3a,7a,12a-Trihydroxy-5b-choles...
- 3a,7a,12a-Trihydroxy-5b-choles...
- 3a,7a-Dihydroxy-5b-cholest-24-...
- 3a,7a-Dihydroxy-5b-cholestan-2...
- 3a,7a-Dihydroxy-5b-cholestane
- 3a,7a-Dihydroxy-5b-cholestanoy...
- 3α,7α,12α-Trihydroxy-5β-choles...
- 3α,7α-Dihydroxycoprostanic aci...
- 3β,7α-Dihydroxy-5-cholestenoat...
- 5-b-Cholestane-3a ,7a ,12a-tri...
- 5b-Cyprinol sulfate
- 7 α,26-Dihydroxy-4-cholesten-3...
- 7-a,25-Dihydroxycholesterol
- 7-a,27-Dihydroxycholesterol
- 7a,12a-Dihydroxy-5b-cholestan-...
- 7a,12a-Dihydroxy-cholestene-3-...
- 7a-Hydroxy-5b-cholestan-3-one
- 7a-Hydroxy-cholestene-3-one
- 7a-Hydroxycholesterol
- 7α-Hydroxy-3-oxo-4-cholestenoa...
- Adenosine diphosphate
- Adenosine triphosphate
- CE(22:2(13Z,16Z))
- Chenodeoxycholic acid
- Chenodeoxycholic acid glycine ...
- Chenodeoxycholoyl-CoA
- Cholesterol
- Cholic acid
- Choloyl-CoA
- Coenzyme A
- Deoxycholic acid
- Deoxycholic acid glycine conju...
- FAD
- Glycine
- Glycocholic acid
- Heme
- Iron
- Lithocholic acid
- Lithocholic acid glycine conju...
- Lithocholyltaurine
- NAD
- NADH
- NADP
- NADPH
- Oxygen
- Palmitic acid
- Propionyl-CoA
- Pyrophosphate
- Taurine
- Taurochenodesoxycholic acid
- Taurocholic acid
- Taurodeoxycholic acid
- Water
- (
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SMP0000928
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xx
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Disease
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SMP0000513
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Xanthinuria Type II
Xanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
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Disease
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SMP0125731
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Xanthinuria Type II
Xanthinuria Type II (Xanthine Dehydrogenase Deficiency) is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
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Disease
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SMP0125727
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Xanthinuria Type I
Xanthinuria Type I (Xanthine Dehydrogenase Deficiency) is a condition caused by an autosomal recessive mutation. The condition was discovered (though not diagnosed) in 1817, when stones formed of almost pure xanthine were first identified by Marcet. The symptoms arise because of a malfunction in the production of xanthine oxidase. It is a rare . It is characterized by a loss of oxidase such as in serum and the uric acid found in the urine. This enzyme deficiency causes the accumulation of xanthine in the plasma, hypoxanthine in the serum, and xanthine in the urine. They will be found in the latter and former in increased quantities. Although the condition can cause a wide range of symptoms including renal xanthine stones, what occurs most of the time is that xanthinuria is asymptomatic and diagnosis is product of chance. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis.
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Disease
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SMP0000512
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Xanthinuria Type I
Xanthinuria Type I is a condition caused by an autosomal recessive mutation. The condition was discovered (though not diagnosed) in 1817, when stones formed of almost pure xanthine were first identified by Marcet. The symptoms arise because of a malfunction in the production of xanthine oxidase. It is a rare . It is characterized by a loss of oxidase such as in serum and the uric acid found in peepee. As a result, the opposite is true for the presence of xanthine and hypoxanthine. They will be found in the latter and former in increased quantities. Although the condition can cause a wide range of symptoms including renal xanthine stones, what occurs most of the time is that xanthinuria is asymptomatic and diagnosis is product of chance.
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Disease
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SMP0000220
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Xanthine Dehydrogenase Deficiency (Xanthinuria)
The rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in serum or hypoxanthine, uric acid and xanthine in the urine. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis.
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Disease
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SMP0000511
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Wolman Disease
In Wolman's disease excessive amounts of cholesterol ester in the liver are present mainly in the macrophages of the reticuloendo- thelial system. The livler in Wiolman's disease contains triglyceride at 10 to 20 times the normal concentratlon, most of whilch is present in hepatocytes. The first case of Wolman's disease was published in 1956 by M. Wolman, M.D., reporting a case of a 2 month old girl who had been admitted to the Hadassah University Hospital. Lysosomal acid lipase/acid cholesteryl ester hydrolase (LAL/ACEH) plays an important role in cellular processing of plasma lipoproteins and thus contributes to both the homeostatic control of plasma lipoprotein levels and the prevention of cellular lipid overload. Wolman's Disease results from severely reduced levels of the enzyme lysosomal acid lipase/acid cholesteryl ester hydrolase.
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Disease
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SMP0123042
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Wilson disease
Wilson disaease
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Disease
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