PathWhiz

PathWhiz ID	Pathway	Meta Data
PW122008 View Pathway	disease S-Adenosylhomocysteine (SAH) Hydrolase Deficiency Rattus norvegicus S-Adenosylhomocysteine hydrolase deficiency, also known as AdoHcy hydrolase deficiency or adenosylhomocysteinase (AHCY) deficiency, is an autosomal recessive disorder characterized by a defective AHCY gene. AHCY codes for the enzyme S-adenosylhomocysteine hydrolase (AdoHcyase) which efficiently eliminates S-adenosylhomocysteine (SAH) by catalyzing its hydrolysis into adenosine and homocysteine. SAH is both a byproduct of S-adenosylmethionine-dependent methyltransferases and a powerful methyltransferase inhibitor. For these reasons, AdoHcyase is thought to play an essential role in regulating methylations. AdoHcyase deficiency causes a buildup of homocysteine which may be then converted into methionine or cysteine. The accumulation of methionine as a result of AHCY deficiency may lead to signs and symptoms associated with hypermethioninemia, including mental and motor retardation, dysmorphism (unusual facial features), and abnormalities in liver function. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW121783 View Pathway	disease S-Adenosylhomocysteine (SAH) Hydrolase Deficiency Mus musculus S-Adenosylhomocysteine hydrolase deficiency, also known as AdoHcy hydrolase deficiency or adenosylhomocysteinase (AHCY) deficiency, is an autosomal recessive disorder characterized by a defective AHCY gene. AHCY codes for the enzyme S-adenosylhomocysteine hydrolase (AdoHcyase) which efficiently eliminates S-adenosylhomocysteine (SAH) by catalyzing its hydrolysis into adenosine and homocysteine. SAH is both a byproduct of S-adenosylmethionine-dependent methyltransferases and a powerful methyltransferase inhibitor. For these reasons, AdoHcyase is thought to play an essential role in regulating methylations. AdoHcyase deficiency causes a buildup of homocysteine which may be then converted into methionine or cysteine. The accumulation of methionine as a result of AHCY deficiency may lead to signs and symptoms associated with hypermethioninemia, including mental and motor retardation, dysmorphism (unusual facial features), and abnormalities in liver function. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49
PW000102 View Pathway	disease S-Adenosylhomocysteine (SAH) Hydrolase Deficiency Homo sapiens S-Adenosylhomocysteine hydrolase deficiency, also known as AdoHcy hydrolase deficiency or adenosylhomocysteinase (AHCY) deficiency, is an autosomal recessive disorder characterized by a defective AHCY gene. AHCY codes for the enzyme S-adenosylhomocysteine hydrolase (AdoHcyase) which efficiently eliminates S-adenosylhomocysteine (SAH) by catalyzing its hydrolysis into adenosine and homocysteine. SAH is both a byproduct of S-adenosylmethionine-dependent methyltransferases and a powerful methyltransferase inhibitor. For these reasons, AdoHcyase is thought to play an essential role in regulating methylations. AdoHcyase deficiency causes a buildup of homocysteine which may be then converted into methionine or cysteine. The accumulation of methionine as a result of AHCY deficiency may lead to signs and symptoms associated with hypermethioninemia, including mental and motor retardation, dysmorphism (unusual facial features), and abnormalities in liver function. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52
PW127245 View Pathway	disease S-Adenosylhomocysteine (SAH) Hydrolase Deficiency Homo sapiens S-Adenosylhomocysteine hydrolase deficiency, also known as AdoHcy hydrolase deficiency or adenosylhomocysteinase (AHCY) deficiency, is an autosomal recessive disorder characterized by a defective AHCY gene. AHCY codes for the enzyme S-adenosylhomocysteine hydrolase (AdoHcyase) which efficiently eliminates S-adenosylhomocysteine (SAH) by catalyzing its hydrolysis into adenosine and homocysteine. SAH is both a byproduct of S-adenosylmethionine-dependent methyltransferases and a powerful methyltransferase inhibitor. For these reasons, AdoHcyase is thought to play an essential role in regulating methylations. AdoHcyase deficiency causes a buildup of homocysteine which may be then converted into methionine or cysteine. The accumulation of methionine as a result of AHCY deficiency may lead to signs and symptoms associated with hypermethioninemia, including mental and motor retardation, dysmorphism (unusual facial features), and abnormalities in liver function. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: November 21, 2022 at 17:03 Last Updated: November 21, 2022 at 17:03
PW122237 View Pathway	signaling SA-dependent resistance Arabidopsis thaliana BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: September 21, 2018 at 05:34 Last Updated: September 21, 2018 at 05:34
PW146311 View Pathway	drug action Saccharide isomerate Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 17:55 Last Updated: October 07, 2023 at 17:55
PW000112 View Pathway	disease Saccharopinuria/Hyperlysinemia II Homo sapiens Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and causes an increase in saccharopine in the urine. Saccharopinuria is another form of hyperlysinemia. AASS has lysine ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity. AASS acts in the first 2 steps in lysine degradation. A defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. Symptoms include growth and mental retardation. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52
PW127265 View Pathway	disease Saccharopinuria/Hyperlysinemia II Homo sapiens Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and causes an increase in saccharopine in the urine. Saccharopinuria is another form of hyperlysinemia. AASS has lysine ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity. AASS acts in the first 2 steps in lysine degradation. A defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. Symptoms include growth and mental retardation. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: November 24, 2022 at 17:32 Last Updated: November 24, 2022 at 17:32
PW122007 View Pathway	disease Saccharopinuria/Hyperlysinemia II Rattus norvegicus Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and causes an increase in saccharopine in the urine. Saccharopinuria is another form of hyperlysinemia. AASS has lysine ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity. AASS acts in the first 2 steps in lysine degradation. A defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. Symptoms include growth and mental retardation. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW121782 View Pathway	disease Saccharopinuria/Hyperlysinemia II Mus musculus Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and causes an increase in saccharopine in the urine. Saccharopinuria is another form of hyperlysinemia. AASS has lysine ketoglutarate reductase (LKR) and saccharopine dehydrogenase (SDH) activity. AASS acts in the first 2 steps in lysine degradation. A defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. Symptoms include growth and mental retardation. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49