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Segawa Syndrome
smpdb.ca/view/SMP0000490DiseaseTetrahydrobiopterin is an important compound in the production of neurotransmitters, specifically dopamine and serotonin, and the processing of quite a few amino acids, The mutation on GCH1 causes GTP
DOPA-Responsive Dystonia
smpdb.ca/view/SMP0000486DiseaseTetrahydrobiopterin is an important compound in the production of neurotransmitters, specifically dopamine and serotonin, and the processing of quite a few amino acids, The mutation on GCH1 causes GTP
Hyperphenylalaninemia Due to DHPR-Deficiency
smpdb.ca/view/SMP0000489DiseaseWhen tetrahydrobiopterin levels drop, the breakdown of many several amino acids, such as phenylalanine, is reduced and as a result their levels in the blood augment.
DOPA-Responsive Dystonia
smpdb.ca/view/SMP0125582DiseaseTetrahydrobiopterin is an important compound in the production of neurotransmitters, specifically dopamine and serotonin, and the processing of quite a few amino acids, The mutation on GCH1 causes GTP
Galactose
go.drugbank.com/drugs/DB11735ApprovedInvestigationalWithdrawnNevertheless, none of these ongoing studies have yet provided formal elucidation for their proposals. As a naturally occurring sugar, it may be found in a number dairy products.
Clotrimazole Action Pathway
smpdb.ca/view/SMP0125104Drug actionacids. … The Hydroxycarboxylic acid receptor has a high affinity for (D)-beta-hydroxybutyrate and nicotinic acid, but only in high enough doses that are not present in the human body.
Drugs: ATP · Clotrimazole · Magnesium cation · Formic acid · Cyclic adenosine monophosphate · Mesoheme +1 moreEnzymes: Hydroxycarboxylic acid receptor 2Anti-inflammatory pathway
smpdb.ca/view/SMP0125485DiseaseGlutamine and fatty acids fuel the TCA cycle to support oxidative-phosphorylation. Aerobic glycolysis stops. … PPARγ inhibits the NF-κB pathway and induces the expression of anti-inflammatory genes while at the same time increasing fatty-acid β-oxidation and glutaminolysis.
Enzymes: Large neutral amino acids transporter small subunit 1Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0000488DiseaseBH4-deficient hyperphenylalaninemia has several causes. One such cause is a PTS deficiency resultant from a genetic mutation. (In particular, a mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase.) The mutation is autosoma...
Pterine Biosynthesis
smpdb.ca/view/SMP0000005MetabolicFolates are very important cofactors that provide support for many biosynthetic reactions. The reactions depicted in this pathway include reactions that are paired with transports, within the cell, travelling intracellularly, which allow...
Bloch Pathway (Cholesterol Biosynthesis)
smpdb.ca/view/SMP0121057MetabolicThe enzyme methyl monooxygenase 1 uses 4a-hydroxymethyl-4b-methyl-5a-cholesta-8,24-dien-3b-ol to produce 4a-formyl-4b-methyl-5a-cholesta-8,24-dien-3b-ol. … This reaction is repeated once more, using 4a-formyl-4b-methyl-5a-cholesta-8,24-dien-3b-ol and methyl monooxygenase 1 to create 4a-carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol.
Drugs: Iron · Formic acid · Mesoheme · Flavin adenine dinucleotide · Flavin mononucleotide · Cholesterol