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Sialuria or French Type Sialuria
smpdb.ca/view/SMP0000216DiseaseSialuria is caused by mutation in the gene encoding uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase, which causes an excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). This causes accumulation...
Hyperlysinemia II or Saccharopinuria
smpdb.ca/view/SMP0000528DiseaseSaccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type II) is an autosomal recessive disease characterized by high concentration...
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 moreSialuria or French Type Sialuria
smpdb.ca/view/SMP0000217DiseaseSialuria is caused by mutation in the gene encoding uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase, which causes an excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). This causes accumulation...
Gout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0000365DiseaseGout, also called Kelley-Seegmiller syndrome, is a condition that is hereditary and causes an excess in the production of uric acid in the body. It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. W...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreSialuria or French Type Sialuria
smpdb.ca/view/SMP0125712DiseaseSialuria is caused by mutation in the gene encoding uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase, which causes an excessive synthesis of sialic acid (N-acetylneuraminic acid, NeuAc). This causes accumulation...
Gout or Kelley-Seegmiller Syndrome
smpdb.ca/view/SMP0125723DiseaseGout, also called Kelley-Seegmiller syndrome, is a condition that is hereditary and causes an excess in the production of uric acid in the body. It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. W...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreMultiple Carboxylase Deficiency, Neonatal or Early Onset Form
smpdb.ca/view/SMP0125778Diseasein the BTD gene or the HLCS gene. … Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations
Congenital Erythropoietic Porphyria (CEP) or Gunther Disease
smpdb.ca/view/SMP0000345DiseaseTreatment of CEP includes limiting or eliminating exposure to the sun, blood transfusions, and potentially bone marrow transplants or stem cell treatment. … Congenital Erythropoietic Porphyria (CEP), also known as Gunther Disease, uroporphyrinogen III synthase defiency or UROS deficiency, is a rare autosomal recessive rare inborn error of metabolism (IEM).
Tyrosinemia Type 2 (or Richner-Hanhart Syndrome)
smpdb.ca/view/SMP0000369DiseaseTyrosinemia II also known as Richner-Hanhart syndrome is an autosomal recessive disorder caused by a mutation in the TAT gene the encodes for tyrosine aminotransferase. A defect in this enzyme causes excess tyrosine to accumulate in the ...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 moreTyrosinemia Type 2 (or Richner-Hanhart Syndrome)
smpdb.ca/view/SMP0125603DiseaseTyrosinemia II also known as Richner-Hanhart syndrome is an autosomal recessive disorder caused by a mutation in the TAT gene the encodes for tyrosine aminotransferase. A defect in this enzyme causes excess tyrosine to accumulate in the ...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 more