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beta-Aminoisobutyric Aciduria
smpdb.ca/view/SMP0125597DiseaseHyper-beta-aminoisobutyric aciduria or BAIB urinary excretion is a common, autosomal recessive condition characterized by high levels of excretion of beta-aminoisobutyric acid in the urine. It is probably the most common mendelian metabo...
Methylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0125620DiseaseMethylcobalamin (MeCbl) is the cofactor of methionine synthase and involved in the conversion of homocysteine to methionine. Adenosylcobalamin (AdoCbl) is a cofactor for methylmalonyl CoA mutase converting methylmalonic acid into succini...
Malonyl-CoA Decarboxylase Deficiency
smpdb.ca/view/SMP0125621DiseaseMalonyl CoA decarboxylase deficiency, also claled MCD deficiency, is a rare inborn error of fatty acid metabolism and autosomal-recessive metabolic disorder, which is caused by a defective mitochondrial malonyl CoA decarboxylase due to r...
Hyperprolinemia Type I
smpdb.ca/view/SMP0125626DiseaseHyperprolinemia 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 moreProlinemia Type II
smpdb.ca/view/SMP0125627DiseaseProlinemia Type II is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH) mitochondrial matrix NAD-dependent dehydrogenase. This dehydrogenase is a catalyst for converting pyrroline-5-carboxylate to glutamate in ...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreGuanidinoacetate 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 more3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
smpdb.ca/view/SMP0125660Disease3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-Hydroxy-3-methylglutaric acidemia; Leucine metabolism, defect in, HMG-CoA lyase deficiency) is an autosomal recessive disease caused by a mutation in the HMGCL gene which codes for hydro...
3-Methylcrotonyl-CoA Carboxylase Deficiency Type I
smpdb.ca/view/SMP0125662Disease3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Type I also called 3-MCC Deficiency is a rare inborn error of metabolism (IEM) and is the result of defective pair of genes. More specifically defects in genes MCCC1 and MCCC2 cause 3-MC...
Methylmalonate Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0125669DiseaseMethylmalonate Semialdehyde Dehydrogenase Deficiency (MMSDH Deficiency; Aldehyde Dehydrogenase 6 Family, Member A1; ALDH6A1 Deficiency)is caused by a defect in methylmalonate semialdehyde dehydrogenase, which catalyzes the irreversible o...
3-Hydroxyisobutyric Acid Dehydrogenase Deficiency
smpdb.ca/view/SMP0125673Disease3-Hydroxyisobutyric acid dehydrogenase deficiency (3-hydroxyisobutyric aciduria) is an extremely rare inborn error of metabolism (IEM), potentially caused by numerous mechanisms. It is currently thought to be autosomal recessively inheri...