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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 moreKandutsch-Russell Pathway (Cholesterol Biosynthesis)
smpdb.ca/view/SMP0121060MetabolicThe Kandutsch-Russell pathway is the alternative pathway stemming from the mevalonate pathway completing cholesterol biosynthesis. The Bloch pathway and the Kandutsch-Russell pathway are both key to a functioning human body as cholestero...
Drugs: Iron · Formic acid · Mesoheme · Flavin adenine dinucleotide · Flavin mononucleotide · CholesterolMetabolism and Physiological Effects of Orotic acid
smpdb.ca/view/SMP0124870MetabolicOrotic acid (orotate) is classified as a pyrimidinemonocarboxylic acid. Most urinary orotic acid is synthesized in the body, where it arises as an intermediate in the pathway for the synthesis of pyrimidine nucleotides. It originates fro...
Metabolism and Physiological Effects of Uridine
smpdb.ca/view/SMP0124871MetabolicUridine, also known as beta-uridine or 1-beta-D-ribofuranosylpyrimidine-2,4(1H,3H)-dione, is a member of the class of compounds known as pyrimidine nucleosides. Pyrimidine nucleosides are compounds comprising a pyrimidine base attached t...
Immunometabolism Pathway (Viral Activation)
smpdb.ca/view/SMP0125488DiseaseThe normal response to a virus infection involves viral coat proteins activating the Toll-like receptors TLR4 and TLR2 on the membranes of macrophages, T-cells and dendritic cells. In addition to this protein activation, the viral DNA (o...
Bacterial Sepsis
smpdb.ca/view/SMP0125493DiseaseBacterial sepsis begins when bacteria activate the Toll-like receptor TLR4 on the membranes of macrophages, T-cells and dendritic cells. TLR4 activates the production of interferon regulatory factor 3 (IRF3), TIR-domain-containing adapte...
Carnosinuria, Carnosinemia
smpdb.ca/view/SMP0125598DiseaseCarnosinemia, also known as carnosinemia, is a rare inborn error of metabolism (IEM) and recessive autosomal disorder caused by a defective CNDP1 gene which encodes for carnosinase. Carnosinase is a dipeptidase enzyme that catalyzes the ...
Arginine: 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 more