| PathWhiz ID | Pathway | Meta Data |
|---|---|---|
PW064692 |
creDrosophila melanogaster
|
Creator: Guest: Anonymous Created On: February 25, 2018 at 01:04 Last Updated: February 25, 2018 at 01:04 |
PW000480 |
disease
Creatine Deficiency, Guanidinoacetate Methyltransferase DeficiencyHomo sapiens
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: WishartLab Created On: August 29, 2013 at 10:38 Last Updated: August 29, 2013 at 10:38 |
PW122049 |
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.
|
Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51 |
PW121825 |
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.
|
Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50 |
PW132605 |
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.
|
Creator: Ray Kruger Created On: September 21, 2023 at 22:36 Last Updated: September 21, 2023 at 22:36 |
PW144288 |
drug action
Creatine Drug Metabolism Action PathwayHomo sapiens
|
Creator: Ray Kruger Created On: October 07, 2023 at 13:06 Last Updated: October 07, 2023 at 13:06 |
PW123939 |
protein
crebHomo sapiens
|
Creator: Guest: Anonymous Created On: June 18, 2020 at 03:07 Last Updated: June 18, 2020 at 03:07 |
PW123938 |
physiological
CREB PATHWAYHomo sapiens
|
Creator: Guest: Anonymous Created On: June 18, 2020 at 03:03 Last Updated: June 18, 2020 at 03:03 |
PW000998 |
signaling
CREB signallingMus musculus
|
Creator: Guest: Anonymous Created On: August 06, 2015 at 10:40 Last Updated: August 06, 2015 at 10:40 |
PW146262 |
drug action
Cresol Drug Metabolism Action PathwayHomo sapiens
|
Creator: Ray Kruger Created On: October 07, 2023 at 17:48 Last Updated: October 07, 2023 at 17:48 |