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Glucose-6-phosphate Dehydrogenase Deficiency
smpdb.ca/view/SMP0125653DiseaseAbout 400 million people (1 in 20) have G6PDD globally and it is particularly common in certain parts of Africa, Asia, the Mediterranean, and the Middle East. … This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, shortness of breath, fatigue, and a rapid heart rate.
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreEnzymes: Fructose-1,6-bisphosphatase 1, Fructose-bisphosphate aldolase ARibose-5-phosphate Isomerase Deficiency
smpdb.ca/view/SMP0125654DiseaseThere are other symptoms, including leukoencephalopathy and neuropathy, which may be caused by a toxic accumulation of ribitol and arabitol, or a potential lack of ribose-5-phosphate in RNA synthesis. … This combination meant that activity of RPI was found to vary across tissues and cell types.
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreEnzymes: Fructose-1,6-bisphosphatase 1, Fructose-bisphosphate aldolase AGlucose-6-phosphate Dehydrogenase Deficiency
smpdb.ca/view/SMP0000518DiseaseAbout 400 million people (1 in 20) have G6PDD globally and it is particularly common in certain parts of Africa, Asia, the Mediterranean, and the Middle East. … This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, shortness of breath, fatigue, and a rapid heart rate.
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreEnzymes: Fructose-1,6-bisphosphatase 1, Fructose-bisphosphate aldolase ARibose-5-phosphate Isomerase Deficiency
smpdb.ca/view/SMP0000519DiseaseThere are other symptoms, including leukoencephalopathy and neuropathy, which may be caused by a toxic accumulation of ribitol and arabitol, or a potential lack of ribose-5-phosphate in RNA synthesis. … This combination meant that activity of RPI was found to vary across tissues and cell types.
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreEnzymes: Fructose-1,6-bisphosphatase 1, Fructose-bisphosphate aldolase ATransaldolase Deficiency
smpdb.ca/view/SMP0000520DiseaseTransaldolase is an enzyme that reversibly converts D-erythrose 4-phosphate and fructose 6-phosphate to D-sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate, as a part of the pentose phosphate … Almost all affected patients show hepatosplenomegaly, liver dysfunction, low counts for all blood cell types, cardiac defects, and come from consanguinous families.
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreEnzymes: Fructose-1,6-bisphosphatase 1, Fructose-bisphosphate aldolase ATransaldolase Deficiency
smpdb.ca/view/SMP0125655DiseaseTransaldolase is an enzyme that reversibly converts D-erythrose 4-phosphate and fructose 6-phosphate to D-sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate, as a part of the pentose phosphate … Almost all affected patients show hepatosplenomegaly, liver dysfunction, low counts for all blood cell types, cardiac defects, and come from consanguinous families.
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreEnzymes: Fructose-1,6-bisphosphatase 1, Fructose-bisphosphate aldolase AAmino Sugar Metabolism
smpdb.ca/view/SMP0000045MetabolicAmino sugars are sugar molecules containing an amine group. They make up many polysaccharides including, glycosaminoglycans or mucopolysaccharides.
Enzymes: Sialic acid synthase, Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1Sialuria or French Type Sialuria
smpdb.ca/view/SMP0000216DiseaseThis causes accumulation of sialic acid in the urine. Symptoms of sialuria include hepatosplenomegaly, hypotonia, frequent upper respiratory infections, gastroenteritis and seizures. … Sialuria 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
Enzymes: Sialic acid synthase, Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1Tay-Sachs Disease
smpdb.ca/view/SMP0125715DiseaseTay-Sachs disease also has debilitating juvenile and adult forms. The majority of cases of TSD are found among (but not limited to) the Ashkenazi Jews and French Canadians in Eastern Quebec. … Symptoms include ataxia, visual impairment and loss, cherry-red spot on retinal macula, dystosis multiplex, mental retardation, myoclonus, encephalopathy and psychosis.
Enzymes: Sialic acid synthase, Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1Sialuria or French Type Sialuria
smpdb.ca/view/SMP0000217DiseaseThis causes accumulation of sialic acid in the urine. Symptoms of sialuria include hepatosplenomegaly, hypotonia, frequent upper respiratory infections, gastroenteritis and seizures. … Sialuria 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
Enzymes: Sialic acid synthase, Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1