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Molybdenum Cofactor Deficiency
smpdb.ca/view/SMP0000203DiseaseMolybdenium cofactor deficiency (Sulfite oxidase deficiency) is caused by mutations in the genes MOCS1 and MOCS2 in the formation of molybdenum cofactor. A molybdenum-containing cofactor is essential to the function of 3 enzymes: sulfite...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreXanthine Dehydrogenase Deficiency (Xanthinuria)
smpdb.ca/view/SMP0000220DiseaseThe rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in se...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreLesch-Nyhan Syndrome (LNS)
smpdb.ca/view/SMP0000364DiseaseLesch-Nyhan Syndrome is a syndrome identified through its neurological, behavioural metabolic impact. It is characterized by a mental deficit and self-mutilation, accompanied with an overproduction of uric acid. A mutation of the HPRT1 g...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMitochondrial DNA Depletion Syndrome-3
smpdb.ca/view/SMP0000536DiseaseMitochondrial DNA depletion syndromes are a group of autosomal recessive disorders. They are characterized by decreased levels of mitochondrial DNA (mtDNA), resulting in decreased energy production. Mitochondrial DNA depletion syndrome-3...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMyoadenylate Deaminase Deficiency
smpdb.ca/view/SMP0000537DiseaseMyoadenylate deaminase deficiency, also called adenosine monophosphate (AMP) deaminase deficiency, is an common autosomal recessive disorder caused by a defective AMP deaminase 1. AMP deaminase 1 catalyzes the conversion of inosinic acid...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMolybdenum Cofactor Deficiency
smpdb.ca/view/SMP0125725DiseaseMolybdenium cofactor deficiency (Sulfite oxidase deficiency) is caused by mutations in the genes MOCS1 and MOCS2 in the formation of molybdenum cofactor. A molybdenum-containing cofactor is essential to the function of 3 enzymes: sulfite...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 morePurine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0125728DiseasePurine nucleoside phosphorylase deficiency (Nucleoside phosphorylase; Immunodeficiency) is a rare disease causing severe immunodeficiency. The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is n...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenylosuccinate Lyase Deficiency
smpdb.ca/view/SMP0000167DiseaseAdenylosuccinate Lyase Deficiency. (Adenylosuccinase Deficiency ; Adenylosuccinate monophosphate lyase deficiency) is a rare autosomal recessive disease caused by a mutation in the ADSL gene which codes for adenylosuccinate lyase. A defi...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreXanthinuria Type I
smpdb.ca/view/SMP0000512DiseaseXanthinuria Type I is a condition caused by an autosomal recessive mutation. The condition was discovered (though not diagnosed) in 1817, when stones formed of almost pure xanthine were first identified by Marcet. The symptoms arise beca...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreAdenosine Deaminase Deficiency
smpdb.ca/view/SMP0125721DiseaseAdenosine deaminiase deficiency (immunodeficiency) is an autosomal recessive disease caused by a muation in the ADA gene which codes for adenosine deaminase. A deficiency in this enzyme results in immunodeficiency and a decreased concent...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 more