PathWhiz

PathWhiz ID	Pathway	Meta Data
PW000101 View Pathway	disease Hypermethioninemia Homo sapiens Hypermethioninemia is a rare error of metabolism (IEM) which arises when there is a disfunction in the gene called AHCY. This gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and produces homocysteine as its output. This outputted compound through the its respective pathway may be turned back into cysteine methionine. A dysfunctional defect Adenosylhomocysteinase can lead to the build of of these two compounds in the blood. Of particular interest is that individuals who are affected by hypermethioninemia present a wide spectrum of symptoms. This ranges anywhere from the complete absence of symptoms, to mental retardation, muscle weakness, liver problems, and unusual facial features. 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
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
PW000103 View Pathway	disease Glycine N-Methyltransferase Deficiency Homo sapiens Glycine N-methyltransferase deficiency, also called GNMT deficiency, is an autosomal recessive disorder of methionine metabolism caused by a defective glycine N-methyltransferase (GNMT). GNMT catalyzes the conversion of glycine into N-methylglycine (sarcosine) using S-adenosylmethionine (SAM or AdoMet). This disorder is characterized by a large accumulation of methionine in the plasma and transaminases in the serum. Symptoms of the disorder include hepatomegaly. 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
PW000104 View Pathway	disease Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) Homo sapiens Methylenetetrahydrofolate reductase deficiency (MTHFRD; Homocystinuria due to defect of n(5,10)-methylene THF deficiency) is caused by a defect in the MTHFR gene which codes for methylenetetrahydrofolate reductase. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A defect in this enzyme results in accumulation of homocysteine and methionine in both plasma and urine. Some of the symptoms and signs include mental retardation, withdrawal, hallucinations, delusions, muscle weakness. Some patients remain asymptomatic until adulthood. 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
PW000105 View Pathway	disease Methionine Adenosyltransferase Deficiency Homo sapiens Methionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionine and ATP. Adenosylmethionine is an important methyl donor in most transmethylation reactions. MAT dificiency is characterized by increased homocysteine and methionine levels in plasma; and accumulation of methionine in urine. Symptoms include dystonia, mental retardation and unusual odor. 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
PW000106 View Pathway	disease Ethylmalonic Encephalopathy Homo sapiens Ethylmalonic Encephalopathy (Epema Syndrome; EE) is a rare autosomal recessive disorder caused by a mutation in the ETHE1 gene which codes for protein ETHE1. A deficiency of this protein inhibits proper energy production in mitochondria and a deficiency in cytochrome c oxidase. This results in accumulation of 2-methylbutyrylglycine, N-butyrylglycine, isobutyrylglycine, isovalerylglycine, and methylsuccinic acid in urine. Concentrations of L-carnitine are reduced in plasma. Symptoms, which present at birth, include peripheral neuropathy, seizures, microcephaly, and hypotonia lead to premature death. Treatment includes riboflavin and L-carnitine. 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
PW000107 View Pathway	disease Glutaric Aciduria Type I Homo sapiens Glutaric Aciduria Type 1 is a rare autosomal recessive disease caused by a mutation in the GCDH which codes for glutaryl-CoA dehydrogenase. A deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants. 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
PW000108 View Pathway	disease Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD Deficiency) Homo sapiens Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency) is caused by mutation in the gene encoding short-chain acyl-CoA dehydrogenase, an enzyme which normally breaks down short chain fatty acids. SCADD causes accumulation of ammonia in blood; butyrylcarnitine(C4) in plasma; adipic acid, butyrylglycine, ethylmalonic acid; hexanoylglycine and methylsuccinic acid in urine. Symptoms include hypoglycemia, hypotonia, microcephaly, failure to thrive, lactic acidosis, peripheral neuropathy, and vomiting. 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
PW000109 View Pathway	disease GABA-Transaminase Deficiency Homo sapiens GABA-transaminase deficiency, also known as gamma-amino butyric acid transaminase (GABA-T) deficiency, is an extremely rare autosomal recessive inborn error of metabolism (IEM) that is caused by a defect in the ABAT gene, which codes for 4-aminobutyrate (GABA) aminotransferase. This enzyme is present in several tissues in addition to brain and is most active in liver, and it catalyzes the conversion of GABA and 2-oxoglutarate into succinic semialdehyde and L-glutamate, and when it is deficient, GABA levels in the body, specifically the cerebrospinal fluid, are elevated. GABA is a neurotransmitter found in the nervous system that inhibits neurons from firing, and also affects the development of the brain, as well as regulating muscle tone. GABA-T can also convert beta-alanine and oxoglutaric acid to L-glutamic acid and malonic semialdehyde as part of the beta-alanine metabolism pathway, and when it is mutated, leads to an accumulation of beta-alanine within the cell. GABA-T deficiency is characterized by an increase of GABA levels in the cerebrospinal fluid. Symptoms of this disorder include low muscle tone and psychomotor retardation, as well as potential epilepsy and excessive sleeping. Treatment with Flumanezil, sold as Anexate, Lanexat, Mazicon or Romazicon, a GABA-A antagonist, has been tested and may be beneficial in some cases, and potentially more effective if started at a young age. It is estimated that GABA-T deficiency affects less than 1 in 1,000,000 individuals, as only five cases have been reported in literature as of 2017. 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
PW000110 View Pathway	disease gamma-Glutamyltransferase Deficiency Homo sapiens Gamma-Glutamyltransferase Deficiency is an autosomal recessive disorder caused by a mutation in the GGT1 gene which codes for gamma-glutamyltranspeptidase 1. A deficiency in this enzyme results in accumulation of L-cysteine, gamma-glutamylcysteine, and glutathione in urine. Symptoms, which present at birth, include tall stature, psychosis, 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