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Creatine 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 moreHyperornithinemia 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 moreL-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 moreHyperlysinemia I, Familial
smpdb.ca/view/SMP0000527DiseaseHyperlysinemia type I is a rare inherited inborn error of metabolism (IEM) of lysine metabolism. It is an autosomal recessive disorder that is caused by a defect in the alpha-aminoadipic semialdehyde synthase gene (AASS). The AASS gene e...
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 moreMonoamine Oxidase-A Deficiency (MAO-A)
smpdb.ca/view/SMP0000533DiseaseMomoamine oxidase A (MAO-A) deficiency, or Brunner syndrome, is an X-linked recessive genetic disorder caused by a mutation in the MAOA gene that encodes for monoamine oxidase A. As such it is almost exclusively found in men. MAO-A is an...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreMitochondrial DNA Depletion Syndrome-3
smpdb.ca/view/SMP0000536DiseaseMitochondrial DNA depletion syndromes are a group of autosomal recessive disorders. They are characterized by decreased levels of mitochondrial DNA (mtDNA), resulting in decreased energy production. Mitochondrial DNA depletion syndrome-3...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMyoadenylate Deaminase Deficiency
smpdb.ca/view/SMP0000537DiseaseMyoadenylate deaminase deficiency, also called adenosine monophosphate (AMP) deaminase deficiency, is an common autosomal recessive disorder caused by a defective AMP deaminase 1. AMP deaminase 1 catalyzes the conversion of inosinic acid...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreSuccinic Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000567DiseaseSuccinic Semialdehyde Dehydrogenase (SSADH) deficiency is a rare autosomal recessive inherited disorder affecting the metabolism of γ-aminobutyric acid (GABA). With reduced GABA activity, oxidation of succinic semialdehyde (SSA) to succi...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 morePyridoxine Dependency with Seizures
smpdb.ca/view/SMP0000571DiseaseThe condition pyridoxine dependent-epilepsy is a condition that sees seizures beginning in infancy. In some cases, the seizures begin before birth. The seizures involve status epilepticus, which are seizures that last several minutes. Th...
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 moreEtoricoxib Action Pathway
smpdb.ca/view/SMP0000695Drug actionEtoricoxib (also named as Arcoxia) is a COX-2 selective inhibitor. It can be used to treat fever, pain, swelling, inflammation, and platelet aggregation. Etoricoxib can block prostaglandin synthesis by the action of inhibition of prostag...