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Ribose-5-phosphate Isomerase Deficiency
smpdb.ca/view/SMP0000519DiseaseRibose-5-phosphate isomerase (RPI) deficiency, is a genetic disorder caused by mutations in the RPIA gene that codes for RPI. RPI is an enzyme that is involved in the pentose phosphate pathway as part of carbohydrate degradation. It reve...
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreTransaldolase Deficiency
smpdb.ca/view/SMP0000520DiseaseTransaldolase deficiency, also known as Eyaid syndrome or TALDO deficiency, is a desease caused by homozygous or compound heterozygous mutations in the TALDO1 gene that encodes for transaldolase. The mutation found in one study was a bas...
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreIsovaleric Acidemia
smpdb.ca/view/SMP0000524DiseaseIsovaleric academia, also called IVA, is an extremely rare inherited inborn error of metabolism (IEM) of leucine metabolism. It is an autosomal recessive disorder that is caused by a deficiency of isovaleryl-CoA dehydrogenase. It is char...
D-Glyceric Acidura
smpdb.ca/view/SMP0000529DiseaseD-Glyceric aciduria is an extremely rare inherited inborn error of metabolism (IEM) of serine and fructose metabolism. It is an autosomal recessive disorder that is caused by a defect in the D-glycerate kinase (GLYCTK) gene. GLYCTK codes...
Drugs: NADH · ATP · sn-glycerol 3-phosphate · Flavin adenine dinucleotide · Palmitic Acid · Glycerin +1 moreAdenine Phosphoribosyltransferase Deficiency (APRT)
smpdb.ca/view/SMP0000535DiseaseAdenine phosphoribosyltransferase deficiency, which is also known as APRTD or APRT deficiency, is a rare inherited inborn error of metabolism (IEM) leading to the recurrent formation of kidney stones. It is an autosomal recessive disorde...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMethylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0000543DiseaseMethylenetetrahydrofolate reductase deficiency (MTHFRD; Homocystinuria due to defect of n(5,10)-methylene THF deficiency) is caused by a defect in the MTHFR gene which codes for methylenetetrahydrofolate reductase. Methylenetetrahydrofol...
Fumarase Deficiency
smpdb.ca/view/SMP0000547DiseaseFumarase deficiency, also called fumaric aciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive metabolic disorder caused by a defective mitochondrial fumarate hydratase. Fumarate hydratase catalyzes the conversion ...
2-Ketoglutarate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0000549Disease2-Ketoglutarate dehydrogenase complex deficiency, also known as alpha-ketoglutarate dehydrogenase deficiency or oxoglutaric aciduria, is an autosomal recessive disorder of the Krebs cycle caused by a defective oxoglutarate dehydrogenase ...
Pyruvate Dehydrogenase Deficiency (E3)
smpdb.ca/view/SMP0000550DiseaseDihydrolipoamide dehydrogenase deficiency, which is also known as DLDD, DLD, E3 deficiency, pyruvate dehydrogenase E3 deficiency, DLD deficiency, E3-deficient maple syrup urine disease, is a rare inherited inborn error of metabolism. DLD...
Glycogenosis, Type IV. Amylopectinosis, Anderson Disease
smpdb.ca/view/SMP0000554DiseaseGlycogen storage disease type IV, also called GSD IV, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective 1,4-alpha-glucan-branching enzyme. 1,4-alpha-glucan-branching enzyme catalyzes the co...
Drugs: Pyridoxal phosphate · NADH · ATP · Calcium · Magnesium cation · Uridine diphosphate glucose +4 more