PathWhiz

PathWhiz ID	Pathway	Meta Data
PW122084 View Pathway	disease Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) Rattus norvegicus Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty acids. This disorder occurs in the mitochondria, where the metabolization of fatty acids takes place. Early-onset VLCADD patients usually begin to exhibit symptoms just days or weeks after birth. Hypoglycemia, lethargy and irritability are symptoms associated with this disorder. Patients will also be at risk for hypertrophic cardiomyopathy and other heart conditions from age two months to two years. It can be diagnosed through a research of family history and generally a urine analysis will reveal that the patient has reduced of absent ketone bodies. To help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours. 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
PW000515 View Pathway	disease Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) Homo sapiens Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty acids. This disorder occurs in the mitochondria, where the metabolization of fatty acids takes place. Early-onset VLCADD patients usually begin to exhibit symptoms just days or weeks after birth. Hypoglycemia, lethargy and irritability are symptoms associated with this disorder. Patients will also be at risk for hypertrophic cardiomyopathy and other heart conditions from age two months to two years. It can be diagnosed through a research of family history and generally a urine analysis will reveal that the patient has reduced of absent ketone bodies. To help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours. 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
PW127307 View Pathway	disease Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) (Fatty Acid Metabolism) Homo sapiens Long Chain Acyl CoA Dehydrogenase Deficiency (LCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty acids. This disorder occurs in the mitochondria, where the metabolization of fatty acids takes place. Early-onset LCADD patients usually begin to exhibit symptoms just days or weeks after birth. Hypoglycemia, lethargy and irritability are symptoms associated with this disorder. Patients will also be at risk for hypertrophic cardiomyopathy and other heart conditions from age two months to two years. It can be diagnosed through a research of family history and generally a urine analysis will reveal that the patient has reduced of absent ketone bodies. To help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 05, 2022 at 17:19 Last Updated: December 05, 2022 at 17:19
PW124615 View Pathway	physiological Long-chain acylcarnitine-induced lipotoxicity Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Nitya Khetarpal Created On: March 30, 2021 at 10:15 Last Updated: March 30, 2021 at 10:15
PW124646 View Pathway	metabolic Long-Chain Acylcarnitine-induced lipotoxicity: targets for treatment Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Kristen Yee Created On: April 11, 2021 at 18:25 Last Updated: April 11, 2021 at 18:25
PW127315 View Pathway	disease Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (Fatty Acid Elongation in Mitochondria) Homo sapiens Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism. The estimated birth prevalence of LCHADD is 1 in 62 000 in Northern European individuals. The worldwide birth prevalence is estimated at 1 in 250 000. MCADD is an autosomal recessive disorder associated with a mutation in the enzyme known as hydroxyacyl-CoA dehydrogenase (HADHA). HADHA catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. HADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present. Deficiencies in this enzyme prevent the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically manifest during infancy or early childhood and can include feeding difficulties, hypoglycemia, hypotonia, lethargy, liver problems, and retinal abnormalities. During late childhood, people may experience muscle pain and peripheral neuropathy. LCHAD-deficiency individuals are also at risk for breathing difficulties, serious heart problems, coma, and sudden death. Fasting or illnesses (e.g. viral infections) can trigger related problems. LCHADD is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarction of the placenta. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 07, 2022 at 12:12 Last Updated: December 07, 2022 at 12:12
PW000520 View Pathway	disease Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Homo sapiens Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism. The estimated birth prevalence of LCHADD is 1 in 62 000 in Northern European individuals. The worldwide birth prevalence is estimated at 1 in 250 000. MCADD is an autosomal recessive disorder associated with a mutation in the enzyme known as hydroxyacyl-CoA dehydrogenase (HADHA). HADHA catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. HADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present. Deficiencies in this enzyme prevent the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically manifest during infancy or early childhood and can include feeding difficulties, hypoglycemia, hypotonia, lethargy, liver problems, and retinal abnormalities. During late childhood, people may experience muscle pain and peripheral neuropathy. LCHAD-deficiency individuals are also at risk for breathing difficulties, serious heart problems, coma, and sudden death. Fasting or illnesses (e.g. viral infections) can trigger related problems. LCHADD is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarction of the placenta. 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
PW122088 View Pathway	disease Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Rattus norvegicus Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism. The estimated birth prevalence of LCHADD is 1 in 62 000 in Northern European individuals. The worldwide birth prevalence is estimated at 1 in 250 000. MCADD is an autosomal recessive disorder associated with a mutation in the enzyme known as hydroxyacyl-CoA dehydrogenase (HADHA). HADHA catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. HADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present. Deficiencies in this enzyme prevent the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically manifest during infancy or early childhood and can include feeding difficulties, hypoglycemia, hypotonia, lethargy, liver problems, and retinal abnormalities. During late childhood, people may experience muscle pain and peripheral neuropathy. LCHAD-deficiency individuals are also at risk for breathing difficulties, serious heart problems, coma, and sudden death. Fasting or illnesses (e.g. viral infections) can trigger related problems. LCHADD is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarction of the placenta. 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
PW121864 View Pathway	disease Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) Mus musculus Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism. The estimated birth prevalence of LCHADD is 1 in 62 000 in Northern European individuals. The worldwide birth prevalence is estimated at 1 in 250 000. MCADD is an autosomal recessive disorder associated with a mutation in the enzyme known as hydroxyacyl-CoA dehydrogenase (HADHA). HADHA catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. HADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present. Deficiencies in this enzyme prevent the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically manifest during infancy or early childhood and can include feeding difficulties, hypoglycemia, hypotonia, lethargy, liver problems, and retinal abnormalities. During late childhood, people may experience muscle pain and peripheral neuropathy. LCHAD-deficiency individuals are also at risk for breathing difficulties, serious heart problems, coma, and sudden death. Fasting or illnesses (e.g. viral infections) can trigger related problems. LCHADD is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarction of the placenta. 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
PW128453 View Pathway	drug action Lonoctocog Alfa Action Pathway Homo sapiens Lonoctocog alfa also known as Afstyla is a recombinant coagulation factor VIII that is used in the treatment of hemophilia A. Once administered intravenously it binds to the coagulation factor IXa to convert coagulation factor X to its active form Xa to carry on the reactions of the clotting cascade. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Selena Created On: August 29, 2023 at 12:09 Last Updated: August 29, 2023 at 12:09