PathWhiz

PathWhiz ID	Pathway	Meta Data
PW121866 View Pathway	disease Congenital Lactic Acidosis Mus musculus Congenital lactic acidosis, also known as CLA, is an inherited inborn error of metabolism (IEM) characterized by the build-up of lactic acid in the body (lactic acidosis). The incidence of congenital lactic acidosis is unknown. One estimate places the incidence at 250-300 live births per year in the United States. CLA is typically caused by a mutation in the genes encoding the pyruvate dehydrogenase complex (PDC) leading to deficiencies in the function and efficiency of pyruvate dehydrogenase complex proteins, which are located in the mitochondria. Collectively the PDC converts pyruvate, NAD+, coenzyme A into acetyl-CoA, CO2, and NADH. While CLA-associated defects have been identified in all 3 enzymes of the PDC complex, the E1-alpha subunit is the most commonly mutated form. Defects in the citric acid cycle due to PDC deficiency deprives the body of energy and leads to an abnormal build-up of lactic acid in tissues and biofluids. CLA has either an autosomal recessive or X-linked mode of inheritance. There are two forms of CLA: severe and mild. Severe cases of CLA manifest in the neonatal period while milder cases may not manifest until early adulthood. Symptoms may be persistent or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal form of CLA include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it can cause developmental delays, cognitive disabilities, abnormal development of the face and head, and organ failure. Treatments for CLA that are occasionally used include the ketogenic diet and dichloroacetate. 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
PW127319 View Pathway	disease Congenital Lactic Acidosis Homo sapiens Congenital lactic acidosis, also known as CLA, is an inherited inborn error of metabolism (IEM) characterized by the build-up of lactic acid in the body (lactic acidosis). The incidence of congenital lactic acidosis is unknown. One estimate places the incidence at 250-300 live births per year in the United States. CLA is typically caused by a mutation in the genes encoding the pyruvate dehydrogenase complex (PDC) leading to deficiencies in the function and efficiency of pyruvate dehydrogenase complex proteins, which are located in the mitochondria. Collectively the PDC converts pyruvate, NAD+, coenzyme A into acetyl-CoA, CO2, and NADH. While CLA-associated defects have been identified in all 3 enzymes of the PDC complex, the E1-alpha subunit is the most commonly mutated form. Defects in the citric acid cycle due to PDC deficiency deprives the body of energy and leads to an abnormal build-up of lactic acid in tissues and biofluids. CLA has either an autosomal recessive or X-linked mode of inheritance. There are two forms of CLA: severe and mild. Severe cases of CLA manifest in the neonatal period while milder cases may not manifest until early adulthood. Symptoms may be persistent or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal form of CLA include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it can cause developmental delays, cognitive disabilities, abnormal development of the face and head, and organ failure. Treatments for CLA that are occasionally used include the ketogenic diet and dichloroacetate. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 08, 2022 at 13:49 Last Updated: December 08, 2022 at 13:49
PW000522 View Pathway	disease Congenital Lactic Acidosis Homo sapiens Congenital lactic acidosis, also known as CLA, is an inherited inborn error of metabolism (IEM) characterized by the build-up of lactic acid in the body (lactic acidosis). The incidence of congenital lactic acidosis is unknown. One estimate places the incidence at 250-300 live births per year in the United States. CLA is typically caused by a mutation in the genes encoding the pyruvate dehydrogenase complex (PDC) leading to deficiencies in the function and efficiency of pyruvate dehydrogenase complex proteins, which are located in the mitochondria. Collectively the PDC converts pyruvate, NAD+, coenzyme A into acetyl-CoA, CO2, and NADH. While CLA-associated defects have been identified in all 3 enzymes of the PDC complex, the E1-alpha subunit is the most commonly mutated form. Defects in the citric acid cycle due to PDC deficiency deprives the body of energy and leads to an abnormal build-up of lactic acid in tissues and biofluids. CLA has either an autosomal recessive or X-linked mode of inheritance. There are two forms of CLA: severe and mild. Severe cases of CLA manifest in the neonatal period while milder cases may not manifest until early adulthood. Symptoms may be persistent or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal form of CLA include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it can cause developmental delays, cognitive disabilities, abnormal development of the face and head, and organ failure. Treatments for CLA that are occasionally used include the ketogenic diet and dichloroacetate. 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
PW122090 View Pathway	disease Congenital Lactic Acidosis Rattus norvegicus Congenital lactic acidosis, also known as CLA, is an inherited inborn error of metabolism (IEM) characterized by the build-up of lactic acid in the body (lactic acidosis). The incidence of congenital lactic acidosis is unknown. One estimate places the incidence at 250-300 live births per year in the United States. CLA is typically caused by a mutation in the genes encoding the pyruvate dehydrogenase complex (PDC) leading to deficiencies in the function and efficiency of pyruvate dehydrogenase complex proteins, which are located in the mitochondria. Collectively the PDC converts pyruvate, NAD+, coenzyme A into acetyl-CoA, CO2, and NADH. While CLA-associated defects have been identified in all 3 enzymes of the PDC complex, the E1-alpha subunit is the most commonly mutated form. Defects in the citric acid cycle due to PDC deficiency deprives the body of energy and leads to an abnormal build-up of lactic acid in tissues and biofluids. CLA has either an autosomal recessive or X-linked mode of inheritance. There are two forms of CLA: severe and mild. Severe cases of CLA manifest in the neonatal period while milder cases may not manifest until early adulthood. Symptoms may be persistent or brought on by an event causing stress, such as an asthma attack, seizure, or infection. Symptoms in the neonatal form of CLA include hypotonia, lethargy, vomiting, and tachypnea. As the disease progresses, it can cause developmental delays, cognitive disabilities, abnormal development of the face and head, and organ failure. Treatments for CLA that are occasionally used include the ketogenic diet and dichloroacetate. 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
PW121721 View Pathway	disease Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH Mus musculus Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage enzyme. Cholesterol side-chain cleavage enzyme catalyzes the conversion of cholesterol into 20α-Hydroxycholesterol which is also a substrate of cholesterol side-chain cleavage enzyme. This disorder is characterized by a large accumulation of cholesterol in the mitochondrial. Symptoms of the disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments. 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
PW127365 View Pathway	disease Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH Homo sapiens Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage enzyme. Cholesterol side-chain cleavage enzyme catalyzes the conversion of cholesterol into 20α-Hydroxycholesterol which is also a substrate of cholesterol side-chain cleavage enzyme. This disorder is characterized by a large accumulation of cholesterol in the mitochondrial. Symptoms of the disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 19, 2022 at 10:34 Last Updated: December 19, 2022 at 10:34
PW121946 View Pathway	disease Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH Rattus norvegicus Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage enzyme. Cholesterol side-chain cleavage enzyme catalyzes the conversion of cholesterol into 20α-Hydroxycholesterol which is also a substrate of cholesterol side-chain cleavage enzyme. This disorder is characterized by a large accumulation of cholesterol in the mitochondrial. Symptoms of the disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments. 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
PW000178 View Pathway	disease Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH Homo sapiens Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage enzyme. Cholesterol side-chain cleavage enzyme catalyzes the conversion of cholesterol into 20α-Hydroxycholesterol which is also a substrate of cholesterol side-chain cleavage enzyme. This disorder is characterized by a large accumulation of cholesterol in the mitochondrial. Symptoms of the disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 19, 2013 at 12:05 Last Updated: August 19, 2013 at 12:05
PW144975 View Pathway	drug action Conivaptan Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 14:50 Last Updated: October 07, 2023 at 14:50
PW176012 View Pathway	metabolic Conivaptan Predicted Metabolism Pathway new Homo sapiens Metabolites of Conivaptan are predicted with biotransformer. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Omolola Created On: November 29, 2023 at 13:13 Last Updated: November 29, 2023 at 13:13