PathWhiz ID | Pathway | Meta Data |
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PW122049View Pathway |
disease
Creatine Deficiency, Guanidinoacetate Methyltransferase DeficiencyRattus norvegicus
Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of creatine metabolism caused by a defective guanidinoacetate methyltransferase (GAMT). GAMT catalyzes the conversion of guanidinoacetate into creatine which is used by creatine kinase to resynthesize adenosine triphosphate (ATP) from adenosine diphosphate (ADP). This disease is characterized by a large accumulation of guanidinoacetate and a decrease in creatine in the blood and urine. Symptoms of the disease include developmental delay, hypotonia, and seizures. Treatment with creatine supplementation is very effective. It is estimated that GAMT deficiency affects 1 in 250 000 individuals.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51 |
PW121825View Pathway |
disease
Creatine Deficiency, Guanidinoacetate Methyltransferase DeficiencyMus musculus
Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of creatine metabolism caused by a defective guanidinoacetate methyltransferase (GAMT). GAMT catalyzes the conversion of guanidinoacetate into creatine which is used by creatine kinase to resynthesize adenosine triphosphate (ATP) from adenosine diphosphate (ADP). This disease is characterized by a large accumulation of guanidinoacetate and a decrease in creatine in the blood and urine. Symptoms of the disease include developmental delay, hypotonia, and seizures. Treatment with creatine supplementation is very effective. It is estimated that GAMT deficiency affects 1 in 250 000 individuals.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50 |
PW132605View Pathway |
Creatine Drug MetabolismHomo sapiens
Creatine is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis. Creatine passes through the liver and is then excreted from the body mainly through the kidney.
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Creator: Ray Kruger Created On: September 21, 2023 at 22:36 Last Updated: September 21, 2023 at 22:36 |
PW144288View Pathway |
drug action
Creatine Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 13:06 Last Updated: October 07, 2023 at 13:06 |
PW123939View Pathway |
protein
crebHomo sapiens
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Creator: Guest: Anonymous Created On: June 18, 2020 at 03:07 Last Updated: June 18, 2020 at 03:07 |
PW123938View Pathway |
physiological
CREB PATHWAYHomo sapiens
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Creator: Guest: Anonymous Created On: June 18, 2020 at 03:03 Last Updated: June 18, 2020 at 03:03 |
PW000998View Pathway |
signaling
CREB signallingMus musculus
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Creator: Guest: Anonymous Created On: August 06, 2015 at 10:40 Last Updated: August 06, 2015 at 10:40 |
PW146262View Pathway |
drug action
Cresol Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 17:48 Last Updated: October 07, 2023 at 17:48 |
PW132322View Pathway |
Crisaborole Drug MetabolismHomo sapiens
Crisaborole is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis. Crisaborole passes through the liver and is then excreted from the body mainly through the kidney.
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Creator: Ray Kruger Created On: September 21, 2023 at 20:54 Last Updated: September 21, 2023 at 20:54 |
PW145631View Pathway |
drug action
Crisaborole Drug Metabolism Action PathwayHomo sapiens
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Creator: Ray Kruger Created On: October 07, 2023 at 16:15 Last Updated: October 07, 2023 at 16:15 |