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Sucrase-Isomaltase Deficiency
smpdb.ca/view/SMP0000557DiseaseCongenital sucrase-isomaltase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutatins in the SI gene which encodes for the enzyme sucrase-isomaltase. Sucrase-isomaltase catalyzes the brea...
Drugs: Pyridoxal phosphate · NADH · ATP · Calcium · Magnesium cation · Uridine diphosphate glucose +4 morePyruvate Kinase Deficiency
smpdb.ca/view/SMP0000559DiseasePyruvate kinase deficiency is a genetic disorder. It affects red blood cells in the body. Patients are affected by a condition called chronic hemolytic anemia, which is where red blood cells undergo hemolysis before they are meant to whi...
Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)
smpdb.ca/view/SMP0000560DiseasePhosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxyki...
Fructosuria
smpdb.ca/view/SMP0000561DiseaseFructosuria, full name essential fructosuria, is a condition that presents no symptoms and is benign. Patients with this condition exhibit a mutation in the KHK gene, which leads to fructose metabolism not being completed. This is becaus...
GLUT-1 Deficiency Syndrome
smpdb.ca/view/SMP0000580DiseaseGLUT1 deficiency syndrome, also called GLUT1-DS or De Vivo disease, is an autosomal dominant disorder and caused by a defective solute carrier family 2, facilitated glucose transporter member 1. Solute carrier family 2, facilitated gluco...
Glycogenosis, 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...
Joubert Syndrome
smpdb.ca/view/SMP0000582DiseaseJoubert syndrome is a condition in which brain development is not completed as it should be, including the lack or underdevelopment of the part of the brain that regulates balance and coordination and an abnormal brain stem. The symptoms...
Coagulation
smpdb.ca/view/SMP0000586PhysiologicalBlood coagulation can be initiated by either an extrinsic or an intrinsic pathway, resulting in a cascade of serine protease activation that ultimately leads to the formation of thrombin, which converts soluble fibrinogen to an insoluble...
Cilazapril Metabolism Pathway
smpdb.ca/view/SMP0000592Drug metabolismCilazapril (trade name: Dynorm, Inhibace, Vascace) belongs to the class of drugs known as angiotensin-converting enzyme (ACE) inhibitors and is used primarily to lower high blood pressure (hypertension). This drug can also be used in the...
Quinapril Metabolism Pathway
smpdb.ca/view/SMP0000596Drug metabolismQuinapril (trade name: Accupril) belongs to the class of drugs known as angiotensin-converting enzyme (ACE) inhibitors and is used primarily to lower high blood pressure (hypertension). This drug can also be used in the treatment of cong...