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Methionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0000221DiseaseMAT 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. … MAT catalyzes the formation of adenosylmethionine from methionine and ATP. Adenosylmethionine is an important methyl donor in most transmethylation reactions.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Hypermethioninemia
smpdb.ca/view/SMP0000341DiseaseThis gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and produces homocysteine as its output. … This ranges anywhere from the complete absence of symptoms, to mental retardation, muscle weakness, liver problems, and unusual facial features.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Methionine Metabolism
smpdb.ca/view/SMP0000033MetabolicIf the amino acids cysteine and methionine are available in enough quantity, the pathway will accumulate SAM and this will in turn encourage the production of cysteine and a-ketobutyrate, which are both … the conversion of S-adenosylhomocysteine to produce the compounds homocysteine and adenosine.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0000340DiseaseA 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.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0125684DiseaseThis enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid. … Symptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
smpdb.ca/view/SMP0000214Disease), and abnormalities in liver function. … 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
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Glycine N-Methyltransferase Deficiency
smpdb.ca/view/SMP0000222DiseaseThis disorder is characterized by a large accumulation of methionine in the plasma and transaminases in the serum. Symptoms of the disorder include hepatomegaly. … Glycine N-methyltransferase deficiency, also called GNMT deficiency, is an autosomal recessive disorder of methionine metabolism caused by a defective glycine N-methyltransferase (GNMT).
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0000570DiseaseThis enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid. … Symptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1Lorazepam Action Pathway
smpdb.ca/view/SMP0125053Drug action, chemotherapy-associated anticipatory nausea and vomiting, and psychogenic catatonia. … It is as well used as an anesthesia premedication in adults to relieve anxiety or to produce sedation/amnesia and for the treatment of status epilepticus.
Enzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2Clonazepam Action Pathway
smpdb.ca/view/SMP0125054Drug actionanticonvulsant activity, and anxiolytic action. … In particular, when out of the ordinary rapid and repetitive electrical signals are released in the CNS, it is proposed that the brain can become over-stimulated and ordinary functions are disrupted -
Enzymes: Vesicular inhibitory amino acid transporter, Gamma-aminobutyric acid type B receptor subunit 2