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Sialuria or French Type Sialuria
smpdb.ca/view/SMP0000217DiseaseSialuria is caused by mutation in the gene encoding uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase, which causes an excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). This causes accumulation...
Isovaleric Aciduria
smpdb.ca/view/SMP0000238DiseaseIsovaleric acidemia (IVA) is caused by mutation in the isovaleryl CoA dehydrogenase gene. Isovaleryl CoA dehydrogenase is part of the acyl-CoA dehydrogenase family and is involved in the catabolism of leucine. A defect in this enzyme cau...
Saccharopinuria/Hyperlysinemia II
smpdb.ca/view/SMP0000239DiseaseSaccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and caus...
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 more4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000243Disease4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreHyperinsulinism-Hyperammonemia Syndrome
smpdb.ca/view/SMP0000339DiseaseHyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 morePrimary Hyperoxaluria Type I
smpdb.ca/view/SMP0000352DiseaseType I primary hyperoxaluria (Glycolicaciduria) is caused by mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT). AGXT normally catalyzes the reaction from L-serine and pyruvate to 3-hydroxypyruvate and L-alanine and...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Adenosine phosphate · Glutamic acid · Glycine +6 moreLeukotriene C4 Synthesis Deficiency
smpdb.ca/view/SMP0000353DiseaseLeukotriene C4 synthetase deficiency is caused by a defect in the enzyme leukotriene C4 synthetase (LTC4S). This enzyme catalyzes the synthesis of leukotriene C4 (LTC4) through conjugation of LTA4 with reduced glutathione (GSH), which is...
Argininemia
smpdb.ca/view/SMP0000357DiseaseArgininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginin...
Drugs: Pyridoxal phosphate · Pyruvic acid · Arginine · Aspartic acid · Ornithine · L-Glutamine +11 moreHyperprolinemia 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 moreGout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0000365DiseaseGout, also called Kelley-Seegmiller syndrome, is a condition that is hereditary and causes an excess in the production of uric acid in the body. It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. W...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more