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Cardiolipin Biosynthesis (Barth Syndrome)
smpdb.ca/view/SMP0074684DiseaseA mutated tafazzin gene disrupts this post-synthetic remodeling and causes Barth syndrome (BTHS), an X-linked human disease (PMID: 16973164).
Metabolism and Physiological Effects of Symmetric dimethylarginine (SDMA)
smpdb.ca/view/SMP0124764MetabolicSymmetrical dimethylarginine (SDMA) is produced from L-arginine. L-arginine is obtained from protein-rich foods like red meat, poultry, dairy and eggs. It is absorbed in the intestine to the blood. It enters cells in the body and is meta...
Enzymes: Y+L amino acid transporter 1Metabolism and Physiological Effects of Creatinine
smpdb.ca/view/SMP0123283MetabolicCreatinine is a low-molecular-weight uremic solute and breakdown product of creatine phosphate in muscle, often used as a clinical marker of renal function (altered serum creatinine clearance levels can indicate pathophysiology in variou...
Enzymes: Y+L amino acid transporter 2Metabolism and Physiological Effects of Phenylacetic Acid
smpdb.ca/view/SMP0123256MetabolicPhenylacetic acid is carboxylic acid ester that has also been found to be a uremic toxin that is synthesized from L-phenylalanine. L-Phenylalanine is consumed through high protein foods such as eggs, chicken, liver, beef, milk, and soybe...
Enzymes: Y+L amino acid transporter 1Metabolism and Phsyiological Effects of Asymmetric dimethylarginine (ADMA)
smpdb.ca/view/SMP0124747MetabolicAsymmetrical dimethylarginine (ADMA) is produced from L-arginine. L-arginine is obtained from protein-rich foods like red meat, poultry, dairy and eggs. It is absorbed in the intestine to the blood. It enters cells in the body and is met...
Enzymes: Y+L amino acid transporter 1Metabolism and Physiological Effects of Phenylacetylglutamine
smpdb.ca/view/SMP0123208MetabolicIt has been shown that over 50% of urine phenylacetylglutamine may be derived from kidney conjugation of free plasma phenylacetic acid and/or from the kidney's preferential filtration of conjugated phenylacetic
Drugs: Phenylalanine · L-Glutamine · Adenosine phosphate · ATP · Magnesium cation · Phenylpyruvic acid +1 moreEnzymes: Y+L amino acid transporter 1Hyperphenylalaninemia Due to DHPR-Deficiency
smpdb.ca/view/SMP0125586DiseaseHyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR) is the high presence of phenylalanine in the system/blood caused by a genetic mutation. More specificially, mutations in the QDPR gene are the root cause of the co...
Enzymes: Y+L amino acid transporter 1Kidney Function- Proximal Convoluted Tubule
smpdb.ca/view/SMP0121001PhysiologicalThe proximal convoluted tubule is part of the nephron between the Bowman's capsule and the loop of Henle. The proximal convoluted tubule functions to reabsorb sodium, water, and other ions. Sodium and bicarbonate (hydrogen carbonate) are...
Enzymes: Y+L amino acid transporter 2, Y+L amino acid transporter 1Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0125583DiseaseHyperphenylalaninemia is the high presence of phenylalanine in the system/blood caused by a genetic mutation. In this case a missense error in the gene which encodes GTP cyclohydrolase. Consequently, this form of hyperphenylalaninemia is...
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 1