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Methionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0000221DiseaseMethionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionin...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreNon-Ketotic Hyperglycinemia
smpdb.ca/view/SMP0000223DiseaseNon 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 moreShort-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD Deficiency)
smpdb.ca/view/SMP0000235DiseaseShort Chain Acyl CoA Dehydrogenase Deficiency (SCAD Deficiency) is caused by mutation in the gene encoding short-chain acyl-CoA dehydrogenase, an enzyme which normally breaks down short chain fatty acids. SCADD causes accumulation of amm...
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreIsovaleric 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 moreFamilial Hypercholanemia (FHCA)
smpdb.ca/view/SMP0000317DiseaseFamilial Hypercholanemia can be caused by mutations in the TJP2, BAAT or EPHX1 genes which code for bile acid-CoA:amino acid N-acyltransferase, which plays a part in the metabolism of in bile acids. This enzyme plays a particularly impor...
Lysosomal Acid Lipase Deficiency (Wolman Disease)
smpdb.ca/view/SMP0000319DiseaseLysosomal Acid Lipase Deficiency, also known as Wolman disease, is predictably enough the result of a specific defect in lysosomal acid lipase. The defect results from a mutation on the 10th chromosome to the LIPA gene. Of interest is th...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 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 moreHypermethioninemia
smpdb.ca/view/SMP0000341DiseaseHypermethioninemia 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 more