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Hyperprolinemia Type II
smpdb.ca/view/SMP0000360DiseaseHyperprolinemia Type II (HPII), also known as 1-pyrroline-5-carboxylate dehydrogenase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the arginine and proline metabolism pathway. It i...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainGuanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
smpdb.ca/view/SMP0125628DiseaseGuanidinoacetate Methyltransferase Deficiency (Creatine-Deficiency-Syndrome) is a rare autosomal recessive disease caused by a mutation in the GAMT gene which codes for guanidinoacetate N-methyltransferase. A deficiency in this enzyme re...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainHyperprolinemia Type I
smpdb.ca/view/SMP0000361DiseaseHyperprolinemia type I (HPI, proline oxidase deficiency) is caused by mutation in the proline dehydrogenase gene (PRODH), which codes for proline dehydrogenase (proline oxidase). This enzyme converts proline to delta-1-pyrroline-5-carbox...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainArginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
smpdb.ca/view/SMP0000362DiseaseArginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidi...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainCreatine Deficiency, Guanidinoacetate Methyltransferase Deficiency
smpdb.ca/view/SMP0000504DiseaseGuanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of creatine metabolism caused by a defective guanidinoacetate methyltransferase (GAMT...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainHyperornithinemia with Gyrate Atrophy (HOGA)
smpdb.ca/view/SMP0000505DiseaseHyperornithinemia with gyrate atrophy (HOGA), also known as gyrate atrophy of the choroid and retina, OAT deficiency, ornithine aminotransferase deficiency, ornithine keto acid aminotransferase deficiency) is an autosomal recessive disor...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainL-Arginine:Glycine Amidinotransferase Deficiency
smpdb.ca/view/SMP0000507DiseaseArginine:glycine amidinotransferase deficiency, also called AGAT deficiency, is an extremely rare inherited inborn error of metabolism (IEM) and an autosomal recessive disorder caused by a defective arginine:glycine amidinotransferase (A...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainArginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
smpdb.ca/view/SMP0125623DiseaseArginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidi...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainArginine and Proline Metabolism
smpdb.ca/view/SMP0000020MetabolicThe arginine and proline metabolism pathway illustrates the biosynthesis and metabolism of several amino acids including arginine, ornithine, proline, citrulline, and glutamate in mammals. In adult mammals, the synthesis of arginine take...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainGuanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
smpdb.ca/view/SMP0000188DiseaseGuanidinoacetate Methyltransferase Deficiency (Creatine-Deficiency-Syndrome) is a rare autosomal recessive disease caused by a mutation in the GAMT gene which codes for guanidinoacetate N-methyltransferase. A deficiency in this enzyme re...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brain