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beta-Ketothiolase Deficiency
smpdb.ca/view/SMP0000173Diseasebeta-Ketothiolase Deficiency (2-Methyl-3-Hydroxybutyric Acidemia; Mitochondrial Acetoacetyl-CoA Thiolase Deficiency; MAT Deficiency; T2 Deficiency; 3-KTD Deficiency; 3-Ketothiolase Deficiency) is an autosomal recessive disease caused by ...
Cystathionine beta-Synthase Deficiency
smpdb.ca/view/SMP0000177DiseaseCystathionine Beta-Synthase Deficiency (CBS Deficiency; Homocystinuria) is an autosomal recessive disease caused by a mutation in the CBS gene which codes for cystathionine beta-synthase. A deficiency in this enzyme results in accumulati...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreGlycerol Kinase Deficiency
smpdb.ca/view/SMP0000187DiseaseGlycerol Kinase Deficiency (Hyperglycerolemia; Glyceroluria; GK Deficiency; GKD) is a rare metabolic disease caused by a deficiency in the GK gene which codes for glycerol kinase. A deficiency in this enzyme results in accumulation of gl...
Drugs: NADH · ATP · sn-glycerol 3-phosphate · Flavin adenine dinucleotide · Palmitic Acid · Glycerin +1 moreHawkinsinuria
smpdb.ca/view/SMP0000190DiseaseHawkinsinuria (4-Hydroxyphenylpyruvate Hydroxylase Deficiency) is an autosomal dominant disease caused by a mutation in the HPD gene which codes for 4-hydroxyphenylpyruvate dioxygenase. A deficiency in this enzyme results in accumulation...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreHypoacetylaspartia
smpdb.ca/view/SMP0000192DiseaseHypoacetylaspartia, also known as N-acetylaspartate (NAA) deficiency is an extremely rare autosomal recessive inborn error of metabolism (IEM) caused by a mutation in the NAT8L gene. This gene encodes the N-acetylaspartate synthase prote...
Drugs: Pyridoxal phosphate · Arginine · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid +13 moreMaple Syrup Urine Disease
smpdb.ca/view/SMP0000199DiseaseMaple syrup urine disease, also called BCKD deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective BCKDHA, BKCDHB or DBT gene. These genes code for a protein which is vital in the br...
Methylmalonic Aciduria
smpdb.ca/view/SMP0000200DiseaseMethylmalonic acidemia cause defects (Methylmalonaciduria due to methylmalonic CoA mutase; Acidemia, methylmalonic; MMA) in the metabolic pathway where methylmalonyl-coenzyme A (CoA) is converted into succinyl-CoA by the enzyme methylmal...
Phenylketonuria
smpdb.ca/view/SMP0000206DiseasePhenylketonuria (Hyperphenylalaninemia ; HPA ; PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the enzyme hepatic phenylalanine hydroxylase (PAH). PAH is necessary to metabolize the amino acid phenylalani...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 moreHypercholesterolemia
smpdb.ca/view/SMP0000209DiseaseHypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 morePurine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0000210DiseasePurine 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 more