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Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency
smpdb.ca/view/SMP0000487DiseaseConsequently, this form of hyperphenylalaninemia is also called GTP cyclohydrolase I deficiency and/or dopa-responsive dystonia. It is an autosomal recessive mutation. … The 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.
Oxidation of Branched-Chain Fatty Acids
smpdb.ca/view/SMP0000030MetabolicNow moving to the mitochondria, there are four reactions that occur, and are repeated for each molecule of the fatty acid. … Unfortunately, traditional fatty acid oxidation does not work for branched-chain fatty acids, or fatty acids that do not have an even number of carbons, like the fatty acid phytanic acid, found in animal
Enzymes: Long-chain-fatty-acid--CoA ligase 1Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps)
smpdb.ca/view/SMP0125585DiseaseCommon symptoms include: muscular hypotonia, ataxia, bradykinesia, choreoathetosis, depressivity, dysphagia, hyperkinesis, hypsarrhythmia, myoclonus, and others. … BH4 is a cofactor involved in many things and associated with neurotransmitter synthesis. In short, the reduction of levels of BH4 creates issues in the metabolism of phenylalanine.
Enzymes: Y+L amino acid transporter 1Beta Oxidation of Very Long Chain Fatty Acids
smpdb.ca/view/SMP0000052MetabolicWith each turn of the cycle two carbons are removed from the fatty acid chain and the energy of the chemical bonds once housed by the molecule is captured by the reduced energy carriers NADH and FADH2. … The oxidation of fatty acid chains is a process of progress through repetition.
Enzymes: Long-chain-fatty-acid--CoA ligase 1Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000482Metabolic(necessary for the citric acid cycle) and uses trifunctional enzyme subunits alpha and beta to create palmityl-CoA. … Fatty acids and their CoA byproducts can be found in many places in the body, playing major roles in many basic functions of the body.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Long-chain-fatty-acid--CoA ligase 1Methylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0125620Diseaseacid, 3-Hydroxyvaleric acid, glycine, methylcitric acid and methylmalonic acid in urine; and methylmalonic acid in spinal fluid. … Defects in these cofactors for methylmalonyl CoA mutase cause accumulation of ammonia in blood; methylmalonic acid in plasma; creatinine and uric acid in serum; 3-Aminoisobutyric acid, 3-Hydroxypropionic
Enzymes: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrialMethylmalonic Aciduria Due to Cobalamin-Related Disorders
smpdb.ca/view/SMP0000201Diseaseacid, 3-Hydroxyvaleric acid, glycine, methylcitric acid and methylmalonic acid in urine; and methylmalonic acid in spinal fluid. … Defects in these cofactors for methylmalonyl CoA mutase cause accumulation of ammonia in blood; methylmalonic acid in plasma; creatinine and uric acid in serum; 3-Aminoisobutyric acid, 3-Hydroxypropionic
Enzymes: Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrialMitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000480MetabolicA double bond is formed between C-2 and C-3 to produce trans-Δ2-enoyl-CoA which is catalyzed by acyl-CoA-dehydrogenases in the mitochondria. … Medium to long chain fatty acids go directly to the mitochondria, whereas very long chain fatty acids (>22 carbons) may be first metabolized down to octanyl-CoA in the peroxisomes and then transported
Mitochondrial Beta-Oxidation of Medium Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000481MetabolicThe final two steps also have enzymatic forms specific to short chain fatty acids. … Medium to long chain fatty acids go directly to the mitochondria, whereas very long chain fatty acids (>22 carbons) may be first metabolized down to octanyl-CoA in the peroxisomes and then transported
Drugs: Adenosine phosphate · NADH · ATP · Magnesium cation · Lauric acid · Flavin adenine dinucleotide +1 moreHomocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0125684DiseaseThis enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid. … Symptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase