Search
3-Phosphoglycerate Dehydrogenase Deficiency
smpdb.ca/view/SMP0000721Disease3-Phosphoglycerate dehydrogenase deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.The disorder is caused by homozygous or compound heterozygous or h...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Dimethylglycine Dehydrogenase Deficiency
smpdb.ca/view/SMP0000484DiseaseDimethylglycine dehydrogenase deficiency, also called DMGDH deficiency and dimethylglycinuria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glycine metabolism caused by a defective DMGDH gene. DMGDH code...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Non-Ketotic Hyperglycinemia
smpdb.ca/view/SMP0125580DiseaseNon Ketotic Hyperglycinemeia (Glycine encephalopathy; Glycine cleavage system deficiency; NKH) is caused by mutations in several genes in the mitochondrial glycine cleavage system. These include the genes encoding P protein (GLDC), T pro...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Hypermethioninemia
smpdb.ca/view/SMP0125679DiseaseHypermethioninemia 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 pro...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Glycine and Serine Metabolism
smpdb.ca/view/SMP0000004MetabolicThis pathway describes the synthesis and breakdown of several small amino acids, including glycine, serine, and cysteine. All of these compounds share common intermediates and almost all can be biosynthesized from one another. Serine and...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Dihydropyrimidine Dehydrogenase Deficiency (DHPD)
smpdb.ca/view/SMP0000179DiseaseDihydropyrimidine Dehydrogenase Deficiency (DHPD; Thymine-uraciluria) is a rare autosomal recessive disorder caused by a mutation in the DPYD gene which codes for dihydropyrimidine dehydrogenase. A deficiency in this enzyme results in ac...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Dimethylglycine Dehydrogenase Deficiency
smpdb.ca/view/SMP0000242DiseaseDimethylglycine dehydrogenase deficiency, also called DMGDH deficiency and dimethylglycinuria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glycine metabolism caused by a defective DMGDH gene. DMGDH code...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Hyperglycinemia, Non-Ketotic
smpdb.ca/view/SMP0000485DiseaseNonketotic hyperglycinemia (GCE) is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective GLDC gene. GLDC encodes for the enzymes involved in the conversion of glycine to CO2, NH3 and hydroxymethy...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 13-Phosphoglycerate Dehydrogenase Deficiency
smpdb.ca/view/SMP0125581Disease3-Phosphoglycerate dehydrogenase deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.The disorder is caused by homozygous or compound heterozygous or h...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1Dimethylglycine Dehydrogenase Deficiency
smpdb.ca/view/SMP0125578DiseaseDimethylglycine dehydrogenase deficiency, also called DMGDH deficiency and dimethylglycinuria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glycine metabolism caused by a defective DMGDH gene. DMGDH code...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreEnzymes: Betaine--homocysteine S-methyltransferase 1