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Pathways

PathWhiz ID Pathway Meta Data

PW122049

Pw122049 View Pathway
disease

Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency

Rattus 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.

PW121825

Pw121825 View Pathway
disease

Creatine Deficiency, Guanidinoacetate Methyltransferase Deficiency

Mus 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.

PW132605

Pw132605 View Pathway
metabolic

Creatine Drug Metabolism

Homo 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.

PW144288

Pw144288 View Pathway
drug action

Creatine Drug Metabolism Action Pathway

Homo sapiens

PW123939

Pw123939 View Pathway
protein

creb

Homo sapiens

PW123938

Pw123938 View Pathway
physiological

CREB PATHWAY

Homo sapiens

PW000998

Pw000998 View Pathway
signaling

CREB signalling

Mus musculus

PW146262

Pw146262 View Pathway
drug action

Cresol Drug Metabolism Action Pathway

Homo sapiens

PW132322

Pw132322 View Pathway
metabolic

Crisaborole Drug Metabolism

Homo 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.

PW145631

Pw145631 View Pathway
drug action

Crisaborole Drug Metabolism Action Pathway

Homo sapiens