Search
Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0000487DiseaseConsequently, this form of hyperphenylalaninemia is also called GTP cyclohydrolase I deficiency and/or dopa-responsive dystonia. It is an autosomal recessive mutation.
Sepiapterin Reductase Deficiency
smpdb.ca/view/SMP0000491DiseaseSepiapterin reductase deficiency results from a metabolic disorder; namely, the underproduction of Sepiapterin. The cause of this underproduction is an autosomal recessive genetic mutation in the SPR gene. This gene is responsible for Se...
Hyperphenylalaninemia Due to DHPR-Deficiency
smpdb.ca/view/SMP0125586DiseaseWhen 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.
Enzymes: Y+L amino acid transporter 1Kandutsch-Russell Pathway (Cholesterol Biosynthesis)
smpdb.ca/view/SMP0121060MetabolicMethylsterol monooxygenase is used twice more in this pathway, first converting 4a-hydroxymethyl-5a-cholesta-8-en-3b-ol into 4a-formyl-5a-cholesta-8-en-3b-ol, then converting 4a-formyl-5a-cholesta-8-en … Once again, methylsterol monooxygenase 1 is used to convert 4a-formyl-4b-methyl-5a-cholesta-8-en-3b-ol into 4a-carboxy-4b-methyl-5a-cholesta-8-en-3b-ol.
Drugs: Iron · Formic acid · Mesoheme · Flavin adenine dinucleotide · Flavin mononucleotide · CholesterolHyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0125583DiseaseConsequently, this form of hyperphenylalaninemia is also called GTP cyclohydrolase I deficiency and/or dopa-responsive dystonia. It is an autosomal recessive mutation.
Enzymes: Y+L amino acid transporter 1Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0125585DiseaseBH4-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...
Enzymes: Y+L amino acid transporter 1Pafolacianine Action Pathway
smpdb.ca/view/SMP0126305Drug actionPafolacianine is a folate analogue used for the treatment of ovarian cancer. It targets the folate receptor in cancer cells where they are overexpressed. Pafolacianine binds to the receptor and is absorbed via receptor-mediated endocytos...
Segawa Syndrome
smpdb.ca/view/SMP0125587DiseaseTetrahydrobiopterin 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
Enzymes: Aromatic-L-amino-acid decarboxylaseAndrostenedione Metabolism
smpdb.ca/view/SMP0030406MetabolicThe last reaction to form androsterone glucuronide is catalyzed by the large multimer UDP-glucuronosyltransferase 1-1.
Pralatrexate Action Pathway
smpdb.ca/view/SMP0126296Drug actionPralatrexate is a folate analog, used for the treatment of peripheral T-cell lymphoma. Administered intravenously it acts to inhibit dihydrofolate reductase, specifically in cancer cells that have an overexpression of a transporter known...