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Dopamine beta-Hydroxylase Deficiency
smpdb.ca/view/SMP0000498DiseaseNoradrenaline and adrenaline are generally not detectable in plasma, urine, and cerebrospinal fluid, but dopamine is increased 7- to 12-fold in plasma, 4-fold in urine, and 20-fold in CSF. … Treatment with dihydroxyphenylserine has been shown to reduce symptoms and signs of postural hypotension and increase plasma levels of noradrenaline.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorDopamine beta-Hydroxylase Deficiency
smpdb.ca/view/SMP0125594DiseaseNoradrenaline and adrenaline are generally not detectable in plasma, urine, and cerebrospinal fluid, but dopamine is increased 7- to 12-fold in plasma, 4-fold in urine, and 20-fold in CSF. … Treatment with dihydroxyphenylserine has been shown to reduce symptoms and signs of postural hypotension and increase plasma levels of noradrenaline.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorDisulfiram Aldehyde Dehydrogenase Inhibitor Action Pathway
smpdb.ca/view/SMP0122693Drug actionThe unpleasant symptoms (vasodilation, flushing, hypotension, respiratory problems) are meant to deter the patient away from wanting to use alcohol as disulfiram and alcohol together lead to the unwanted … The compound also affects fatty acid transporters that are responsible for transferring reducing equivalents and oxidization as they are sensitive to acetaldehyde.
Enzymes: Alcohol dehydrogenase 1BAlkaptonuria
smpdb.ca/view/SMP0000169DiseaseSymptoms, which present in adulthood, include arthritis, black or brown urine, and urolithiasis. Treatment includes a low-protein diet with vitamin C. … Alkaptonuria (Homogentisic acid oxidase deficiency) is an autosomal recessive disease caused by a mutation in the HGD gene which codes for homogentisate 1,2-dioxygenase.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorHawkinsinuria
smpdb.ca/view/SMP0000190Diseasepyroglutamic acid in urine; and L-tyrosine in plasma. … Symptoms include ketosis, metabolic acidosis, swimming-pool odor, and mental retardation. Treatment includes a low-protein diet and vitamin C.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorTyrosinemia Type I
smpdb.ca/view/SMP0125591Diseaseof tyrosine in the liver and kidneys. … Symptoms of tyrosinemia type I include jaundice and an enlarged liver, kidney dysfunction, as well as a failure to grow, as foods with high protein and amino acids lead to increased symptoms.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorMonoamine Oxidase-A Deficiency (MAO-A)
smpdb.ca/view/SMP0125595Diseaseand other effects. … Since serotonin helps to regulate emotions and mood, with epinephrine and norepinephrine regulating stress, the unnecessary presence of the chemicals in the brain can lead to poor impulse control, aggression
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorTyrosinemia, Transient, of the Newborn
smpdb.ca/view/SMP0125592DiseaseA transient defect in tyrosine metabolism is a common aminoacidopathy in the premature and full-term human infant. … and derivatives.
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreEnzymes: Alcohol dehydrogenase 1A, Macrophage migration inhibitory factorFelbamate Metabolism Pathway
smpdb.ca/view/SMP0000633Drug metabolismacid (catalyzed by the dimeric NADP-preferring aldehyde dehydrogenase), and 4-hydroxy-5-phenyltetrahydro-1,3-oxazin-2-one. … One route of metabolism consists of the hydroxylation to 2-hydroxyfelbamate or p-hydroxyfelbamate, which is catalyzed by CYP2E1 and CYP3A4.
Enzymes: Alcohol dehydrogenase 1ABevacizumab VEGF Inhibitor Action Pathway
smpdb.ca/view/SMP0122788Drug actionIt targets vascular endothelial growth factor (VEGF) in the blood. When cancer grows and spreads, the blood and oxygen supplies become insufficient. … The cancer cells are starved of blood and oxygen, preventing the growth and spread of cancer.
Drugs: BevacizumabEnzymes: Vascular endothelial growth factor A, Vascular endothelial growth factor receptor 1