Search
Arginine and Proline Metabolism
smpdb.ca/view/SMP0000020MetabolicThe arginine and proline metabolism pathway illustrates the biosynthesis and metabolism of several amino acids including arginine, ornithine, proline, citrulline, and glutamate in mammals. In adult mammals, the synthesis of arginine take...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreDihydropyrimidinase Deficiency
smpdb.ca/view/SMP0000178DiseaseDihydropyrimidinase Deficiency (DHPA, Dihydropyrimidinuria Deficiency, DPH Deficiency) is an autosomal recessive disease caused by a mutation in the DPYS gene which codes for dihydropyrimidinase. A deficiency in this enzyme results in ac...
Ethylmalonic Encephalopathy
smpdb.ca/view/SMP0000181DiseaseTreatment includes riboflavin and L-carnitine.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreGuanidinoacetate Methyltransferase Deficiency (GAMT Deficiency)
smpdb.ca/view/SMP0000188DiseaseGuanidinoacetate Methyltransferase Deficiency (Creatine-Deficiency-Syndrome) is a rare autosomal recessive disease caused by a mutation in the GAMT gene which codes for guanidinoacetate N-methyltransferase. A deficiency in this enzyme re...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreProlinemia Type II
smpdb.ca/view/SMP0000208DiseaseProlinemia Type II is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH) mitochondrial matrix NAD-dependent dehydrogenase. This dehydrogenase is a catalyst for converting pyrroline-5-carboxylate to glutamate in ...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreGABA-Transaminase Deficiency
smpdb.ca/view/SMP0000351DiseaseGABA-transaminase deficiency, also known as gamma-amino butyric acid transaminase (GABA-T) deficiency, is an extremely rare autosomal recessive inborn error of metabolism (IEM) that is caused by a defect in the ABAT gene, which codes for...
Ornithine Aminotransferase Deficiency (OAT Deficiency)
smpdb.ca/view/SMP0000363DiseaseOrnithine aminotransferase deficiency (OAT deficiency, ornithine keto acid aminotransferase deficiency, OKT deficiency, ornithine-delta-aminotransferase deficiency, gyrate atrophy of the choroid and retina) is an autosomal recessive diso...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreCarnosinuria, Carnosinemia
smpdb.ca/view/SMP0000493DiseaseCarnosinemia, also known as carnosinemia, is a rare inborn error of metabolism (IEM) and recessive autosomal disorder caused by a defective CNDP1 gene which encodes for carnosinase. Carnosinase is a dipeptidase enzyme that catalyzes the ...
Hypophosphatasia
smpdb.ca/view/SMP0000503DiseaseInfantile hypophosphatasia, also called I-HPP, is a severe, rare and fatal metabolic bone disease and an inborn error of metabolism. I-HPP is caused by a defective alkaline phosphatase, tissue-nonspecific isozyme, which catalyzes the con...
Drugs: Pyridoxal phosphate · Pyridoxal · Pyridoxine · Magnesium cation · Zinc · Pyridoxamine-5'-Phosphate +3 moreHyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH-syndrome)
smpdb.ca/view/SMP0000506DiseaseHyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle caused by a defective SLC25A15 gene. SLC25A15 codes for the mitochondrial ornithine carrier (ORC1) which transports or...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 more