PathWhiz

PathWhiz ID	Pathway	Meta Data
PW122111 View Pathway	disease Succinic Semialdehyde Dehydrogenase Deficiency Rattus norvegicus Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited disorder affecting the metabolism of γ-aminobutyric acid (GABA). With reduced GABA activity, oxidation of succinic semialdehyde (SSA) to succinic acid is impaired causing a build up of SSA and ultimately it’s downstream metabolite γ-hydroxybutyric acid (GHB). Symptoms of SSADH deficiency are primarily neuropsychiatric including developmental delays, hypotonia, expressive language impairment, seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and other behavioral issues. Patients with SSADH deficiency have elevated levels of GHB in urine, however this method is not a definitive diagnosis due to the potential volatilization of acidified urine and the use of GHB as a drug. Instead SSADH can be confirmed suing enzyme analysis in leukocytes and molecular genetic analysis of the Aldh5a1 gene at chromosome 6p22. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW000543 View Pathway	disease Succinic Semialdehyde Dehydrogenase Deficiency Homo sapiens Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited disorder affecting the metabolism of γ-aminobutyric acid (GABA). With reduced GABA activity, oxidation of succinic semialdehyde (SSA) to succinic acid is impaired causing a build up of SSA and ultimately it’s downstream metabolite γ-hydroxybutyric acid (GHB). Symptoms of SSADH deficiency are primarily neuropsychiatric including developmental delays, hypotonia, expressive language impairment, seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and other behavioral issues. Patients with SSADH deficiency have elevated levels of GHB in urine, however this method is not a definitive diagnosis due to the potential volatilization of acidified urine and the use of GHB as a drug. Instead SSADH can be confirmed suing enzyme analysis in leukocytes and molecular genetic analysis of the Aldh5a1 gene at chromosome 6p22. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW121887 View Pathway	disease Succinic Semialdehyde Dehydrogenase Deficiency Mus musculus Succinic Semialdehyde Dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited disorder affecting the metabolism of γ-aminobutyric acid (GABA). With reduced GABA activity, oxidation of succinic semialdehyde (SSA) to succinic acid is impaired causing a build up of SSA and ultimately it’s downstream metabolite γ-hydroxybutyric acid (GHB). Symptoms of SSADH deficiency are primarily neuropsychiatric including developmental delays, hypotonia, expressive language impairment, seizures, difficulty coordinating movements (ataxia), decreased reflexes (hyporeflexia), and other behavioral issues. Patients with SSADH deficiency have elevated levels of GHB in urine, however this method is not a definitive diagnosis due to the potential volatilization of acidified urine and the use of GHB as a drug. Instead SSADH can be confirmed suing enzyme analysis in leukocytes and molecular genetic analysis of the Aldh5a1 gene at chromosome 6p22. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW124100 View Pathway	metabolic succinicGSH Homo sapiens SuccinicGSH is formed in high concentrations of fumarate from GSH. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Miroslava Cuperlovic-Culf Created On: August 21, 2020 at 09:43 Last Updated: August 21, 2020 at 09:43
PW121889 View Pathway	disease Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency Mus musculus Succinyl CoA: 3-Ketoacid CoA Transferase (SCOT) deficiency is a rare inherited metabolic disorder causing reduction of ketone body utilization. In normal functioning patients, ketone bodies such as Acetoacetate (AcAc) and 3‐hydroxybutyrate (3HB) are metabolized inside the liver from free fatty acids. Next, ketone bodies are transported to extrahepatic tissues via the blood stream. Once in extrahepatic tissues, SCOT converts AcAc to acetoacetyl‐CoA and T2 cleaves acetoacetyl‐CoA into acetyl‐CoA. This process is crucial for producing alternative energy sources to glucose in order to maintain blood glucose levels. Patients with SCOT deficiency have this process disturbed and ketoacidosis which is the acidification of the bloodstream due to excess ketone body accumulation, can occur. Current treatments include avoiding actions that could onset ketoacidosis such as fasting and early infusion of glucose. The severity of SCOT deficiency differs from patient to patient. Some exhibit severe genotypes where ketones are always in abundance in the body, while others could have mild genotypes with no preeminent ketosis however both could exhibit ketoacidotic episodes. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW122113 View Pathway	disease Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency Rattus norvegicus Succinyl CoA: 3-Ketoacid CoA Transferase (SCOT) deficiency is a rare inherited metabolic disorder causing reduction of ketone body utilization. In normal functioning patients, ketone bodies such as Acetoacetate (AcAc) and 3‐hydroxybutyrate (3HB) are metabolized inside the liver from free fatty acids. Next, ketone bodies are transported to extrahepatic tissues via the blood stream. Once in extrahepatic tissues, SCOT converts AcAc to acetoacetyl‐CoA and T2 cleaves acetoacetyl‐CoA into acetyl‐CoA. This process is crucial for producing alternative energy sources to glucose in order to maintain blood glucose levels. Patients with SCOT deficiency have this process disturbed and ketoacidosis which is the acidification of the bloodstream due to excess ketone body accumulation, can occur. Current treatments include avoiding actions that could onset ketoacidosis such as fasting and early infusion of glucose. The severity of SCOT deficiency differs from patient to patient. Some exhibit severe genotypes where ketones are always in abundance in the body, while others could have mild genotypes with no preeminent ketosis however both could exhibit ketoacidotic episodes. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW000545 View Pathway	disease Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency Homo sapiens Succinyl CoA: 3-Ketoacid CoA Transferase (SCOT) deficiency is a rare inherited metabolic disorder causing reduction of ketone body utilization. In normal functioning patients, ketone bodies such as Acetoacetate (AcAc) and 3‐hydroxybutyrate (3HB) are metabolized inside the liver from free fatty acids. Next, ketone bodies are transported to extrahepatic tissues via the blood stream. Once in extrahepatic tissues, SCOT converts AcAc to acetoacetyl‐CoA and T2 cleaves acetoacetyl‐CoA into acetyl‐CoA. This process is crucial for producing alternative energy sources to glucose in order to maintain blood glucose levels. Patients with SCOT deficiency have this process disturbed and ketoacidosis which is the acidification of the bloodstream due to excess ketone body accumulation, can occur. Current treatments include avoiding actions that could onset ketoacidosis such as fasting and early infusion of glucose. The severity of SCOT deficiency differs from patient to patient. Some exhibit severe genotypes where ketones are always in abundance in the body, while others could have mild genotypes with no preeminent ketosis however both could exhibit ketoacidotic episodes. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW127350 View Pathway	disease Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency Homo sapiens Disease Pathway Succinyl CoA: 3-Ketoacid CoA Transferase (SCOT) deficiency is a rare inherited metabolic disorder causing reduction of ketone body utilization. In normal functioning patients, ketone bodies such as Acetoacetate (AcAc) and 3‐hydroxybutyrate (3HB) are metabolized inside the liver from free fatty acids. Next, ketone bodies are transported to extrahepatic tissues via the blood stream. Once in extrahepatic tissues, SCOT converts AcAc to acetoacetyl‐CoA and T2 cleaves acetoacetyl‐CoA into acetyl‐CoA. This process is crucial for producing alternative energy sources to glucose in order to maintain blood glucose levels. Patients with SCOT deficiency have this process disturbed and ketoacidosis which is the acidification of the bloodstream due to excess ketone body accumulation, can occur. Current treatments include avoiding actions that could onset ketoacidosis such as fasting and early infusion of glucose. The severity of SCOT deficiency differs from patient to patient. Some exhibit severe genotypes where ketones are always in abundance in the body, while others could have mild genotypes with no preeminent ketosis however both could exhibit ketoacidotic episodes. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 14, 2022 at 11:51 Last Updated: December 14, 2022 at 11:51
PW144333 View Pathway	drug action Succinylcholine Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 13:25 Last Updated: October 07, 2023 at 13:25
PW144490 View Pathway	drug action Sucralfate Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 13:44 Last Updated: October 07, 2023 at 13:44