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Glycogenosis, Type IB
smpdb.ca/view/SMP0125794DiseaseSymptoms 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.
Glycogenosis, Type IC
smpdb.ca/view/SMP0125795DiseaseGlycogenosis, Type IC, a sub-category of glycogen storage disease type I, is a rare inborn error of metabolism (IEM) and caused by a defective glucose-6-phosphatase translocase. … Symptoms of the disorder include longer sleeping time through night, tiredness and seizures due to low blood sugar. Treatment with diet management is very effective.
Galactosemia
smpdb.ca/view/SMP0000182DiseaseSymptoms, which present at birth, include jaundice, enlarged liver, anemia, weight loss, and vomiting. Treatment includes galactose-free diet, antibiotics, and vitamin K. … A deficiency in this enzyme results in accumulation of D-galactose and galactitol in plasma and urine; bilirubin, chloride, and galactose-1-phosphate, and transaminases in serum.
Enoxaparin.
smpdb.ca/view/SMP0000272Drug actionTherefore, low molecular weight heparins like Enoxaparin are more stable and predictable heparins. … The drug increases the inactivation of coagulation factors IXa, Xa and XIIa. This increases the antithrombin effects.
Enzymes: Vitamin K-dependent gamma-carboxylase, Vitamin K epoxide reductase complex subunit 1Ardeparin Action Pathway
smpdb.ca/view/SMP0000275Drug actionArdeparin binds and increases antithrombin III activity and inactivates thrombin, factor Xa and coagulation factors XIIa, XIa, plasmin and kallikrein to prevent clot formation. … These properties increase ardeparin's bioavailability and give a more predictable anticoagulant activity.
Enzymes: Vitamin K-dependent gamma-carboxylase, Vitamin K epoxide reductase complex subunit 1Pafolacianine Action Pathway
smpdb.ca/view/SMP0126305Drug actionIt is administered intravenously and is eliminated through the urine and feces. … Pafolacianine binds to the receptor and is absorbed via receptor-mediated endocytosis.
Folate Malabsorption, Hereditary
smpdb.ca/view/SMP0000724DiseaseHereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway. … Symptoms include feeding difficulties and failure to thrive and anemia, as well as potential neurological issues such as seizures and developmental delays.
Folate Malabsorption, Hereditary
smpdb.ca/view/SMP0125747DiseaseHereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway. … Symptoms include feeding difficulties and failure to thrive and anemia, as well as potential neurological issues such as seizures and developmental delays.
beta-Aminoisobutyric Aciduria
smpdb.ca/view/SMP0125597DiseaseThis enzyme deficiency means that high BAIB excretors have impaired ability to degrade BAIB and thymine. … Hyper-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.
Enzymes: Sodium-coupled neutral amino acid transporter 4Levoleucovorin Action Pathway
smpdb.ca/view/SMP0126269Drug actionFolic acid is necessary in order to produce purines, pyrimidines and methionine required for DNA synthesis and replication. … Levoleucovorin is a folate analog, used to counter the adverse effects of folic acid antagonists.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Serine · Glutamic acid · Glycine · Folic acid +1 more