Search
Tay-Sachs Disease
smpdb.ca/view/SMP0000390DiseaseTay-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/SMP0125712DiseaseThis 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] 1Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)
smpdb.ca/view/SMP0125791DiseaseThis disorder is characterized by a large accumulation of lactic acid in the blood. … Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease
smpdb.ca/view/SMP0000374DiseaseGlucose-6-phosphatase hydrolyzes glucose-6-phosphate to glucose and is responsible for the regulation of blood glucose level. … Symptoms include seizures, irritability, pallor, hypotonia, tremors, loss of consciousness, apnea and hepatomegaly. There is no cure for glycogen storage disease type 1A.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)
smpdb.ca/view/SMP0000560DiseaseThis disorder is characterized by a large accumulation of lactic acid in the blood. … Symptoms of the disorder include hepatomegaly, failure to thrive and liver failure, depending on the severity of the case. Treatment including heavy carbohydrates and fasting is very effective.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Glycogenosis, Type IA. Von Gierke Disease
smpdb.ca/view/SMP0000581DiseaseGlycogenosis, Type IA, also called Von Gierke Disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective glucose-6-phosphatase. … Glucose-6-phosphatase catalyzes the conversion of glucose 6-phosphate into D-glucose and conversion of D-glucose to glucose 6-phosphate.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Triosephosphate Isomerase Deficiency
smpdb.ca/view/SMP0125793DiseaseThis disorder causes anemia, movement problems and muscle weakness. … As a result of the lack of red blood cells to carry oxygen through the body, patients may experience fatigue and shortness of breath.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Gluconeogenesis
smpdb.ca/view/SMP0000128MetabolicMany other compounds can also function as substrates for gluconeogenesis such as citric acid cycle intermediates (through conversion to oxaloacetate), amino acids other than lysine or leucine, and glycerol … Gluconeogenesis, which is essentially the reverse of glycolysis, results in the sythesis of glucose from non-carbohydrate substrates such as lactate, glycerol, and glucogenic amino acids.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Triosephosphate Isomerase Deficiency
smpdb.ca/view/SMP0000563DiseaseThis disorder causes anemia, movement problems and muscle weakness. … As a result of the lack of red blood cells to carry oxygen through the body, patients may experience fatigue and shortness of breath.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1Glycogenosis, Type IB
smpdb.ca/view/SMP0000573DiseaseSymptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective. … Glycogenosis, Type IB, also called von Gierke disease or GSDI, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder which caused by a defective glucose-6-phosphate translocase.
Enzymes: Fructose-bisphosphate aldolase A, Fructose-1,6-bisphosphatase 1