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Hyperphenylalaninemia Due to DHPR-Deficiency
smpdb.ca/view/SMP0000489DiseaseOne observes that such a mutation results in an error encoding a reductase enzyme, and from there a chain reaction of effects lead to the observed effects of the disease. … Hyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR) is the high presence of phenylalanine in the system/blood caused by a genetic mutation.
Hyperphenylalaninemia Due to DHPR-Deficiency
smpdb.ca/view/SMP0125586DiseaseOne observes that such a mutation results in an error encoding a reductase enzyme, and from there a chain reaction of effects lead to the observed effects of the disease. … Hyperphenylalaninemia due to dihydropteridine reductase deficiency (DHPR) is the high presence of phenylalanine in the system/blood caused by a genetic mutation.
Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0125583DiseaseThe mutation results in a reduction in the production of BH4 which is a necessary component in the reaction which transforms phenylalanine to other products in the body.
Methylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0125620DiseaseIt requires its Vitamin B12 derived prosthetic group, adenosylcobalamin, to function.It catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA. … It requires its Vitamin B12 derived prosthetic group, adenosylcobalamin, to function.
Calfactant
go.drugbank.com/drugs/DB06415ApprovedInvestigationalIt is an off-white suspension of an extract of natural surfactant from calf lungs suspended in 0.9% saline. … It adsorbs to the air:fluid interface in the lungs and works to reduce surface tension, in a manner similar to endogenous pulmonary surfactant.
Products: Alveofact 45 mg/ml, 108 mg PHOSPHOLIPID FRACTION FROM BOVINE LUNG (SURFACTANT) POWDER AND SOLVENT FOR PREPARATION OF SUSPENSION INTRATRACHEAL, Alveofact 45 mg/ml, 54 mg PHOSPHOLIPID FRACTION FROM BOVINE LUNG (SURFACTANT) POWDER AND SOLVENT FOR PREPARATION OF SUSPENSION INTRATRACHEALMethylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0000201DiseaseIt requires its Vitamin B12 derived prosthetic group, adenosylcobalamin, to function.It catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA. … It requires its Vitamin B12 derived prosthetic group, adenosylcobalamin, to function.
Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0000487DiseaseThe mutation results in a reduction in the production of BH4 which is a necessary component in the reaction which transforms phenylalanine to other products in the body.
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0000488DiseaseOne 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 autosomal recessive.
Calcium ascorbate
go.drugbank.com/drugs/DB14483ApprovedNutraceuticalMixtures: UltimateCare ONE NF, A/o-26 - CapletProducts: Softgel Vit.c 200mg From Ester-C Br.ca Asc., Vitamin C 1000mg From Ester-C Brand Ca Asc.Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0125585DiseaseOne 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 autosomal recessive.