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Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000482MetabolicFatty acids and their CoA byproducts can be found in many places in the body, playing major roles in many basic functions of the body. … cycle) and uses trifunctional enzyme subunits alpha and beta to create palmityl-CoA.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Long-chain-fatty-acid--CoA ligase 1Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000480MetabolicAcetyl-CoA can then enter the citric acid cycle. … Fatty acids and their CoA esters are found throughout the body, playing roles such as components of cellular lipids, regulators of enzymes and membrane channels, ligands for nuclear receptors, precursor
Mitochondrial Beta-Oxidation of Medium Chain Saturated Fatty Acids
smpdb.ca/view/SMP0000481MetabolicFatty acids and their CoA esters are found throughout the body, playing roles such as components of cellular lipids, regulators of enzymes and membrane channels, ligands for nuclear receptors, precursor … In the fourth and final step, the enzyme beta-ketothiolase cleaves the β-ketoacyl CoA and inserts the thiol group of another CoA between C-2 and C-3, reducing the acyl-CoA by 2 carbons and generating acetyl-CoA
Drugs: Adenosine phosphate · NADH · ATP · Magnesium cation · Lauric acid · Flavin adenine dinucleotide +1 moreHypermethioninemia
smpdb.ca/view/SMP0125679DiseaseThis gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and produces homocysteine as its output. … This ranges anywhere from the complete absence of symptoms, to mental retardation, muscle weakness, liver problems, and unusual facial features.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1, L-amino-acid oxidaseS-Adenosylhomocysteine (SAH) Hydrolase Deficiency
smpdb.ca/view/SMP0125680Disease), and abnormalities in liver function. … The accumulation of methionine as a result of AHCY deficiency may lead to signs and symptoms associated with hypermethioninemia, including mental and motor retardation, dysmorphism (unusual facial features
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1, L-amino-acid oxidaseMethionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0125683DiseaseMAT dificiency is characterized by increased homocysteine and methionine levels in plasma; and accumulation of methionine in urine. Symptoms include dystonia, mental retardation and unusual odor. … MAT catalyzes the formation of adenosylmethionine from methionine and ATP. Adenosylmethionine is an important methyl donor in most transmethylation reactions.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1, L-amino-acid oxidaseGlycine N-Methyltransferase Deficiency
smpdb.ca/view/SMP0125681DiseaseThis disorder is characterized by a large accumulation of methionine in the plasma and transaminases in the serum. Symptoms of the disorder include hepatomegaly. … Glycine N-methyltransferase deficiency, also called GNMT deficiency, is an autosomal recessive disorder of methionine metabolism caused by a defective glycine N-methyltransferase (GNMT).
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1, L-amino-acid oxidaseCystathionine beta-Synthase Deficiency
smpdb.ca/view/SMP0125678DiseaseSymptoms include osteoporosis, myopia, fatty-liver, mental retardation, and early death. Treatment includes folic acid, vitamin B6, vitamin B12, and a methionine-restricted diet. … A deficiency in this enzyme results in accumulation of L-cystathionine, homocysteine, and L-homocystine in plasma and urine; and L-methionine and ornithine in plasma.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1, L-amino-acid oxidaseMethylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0125682DiseaseA defect in this enzyme results in accumulation of homocysteine and methionine in both plasma and urine. … Some of the symptoms and signs include mental retardation, withdrawal, hallucinations, delusions, muscle weakness. Some patients remain asymptomatic until adulthood.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: Betaine--homocysteine S-methyltransferase 1, L-amino-acid oxidaseCystathionine beta-Synthase Deficiency
smpdb.ca/view/SMP0000177DiseaseSymptoms include osteoporosis, myopia, fatty-liver, mental retardation, and early death. Treatment includes folic acid, vitamin B6, vitamin B12, and a methionine-restricted diet. … A deficiency in this enzyme results in accumulation of L-cystathionine, homocysteine, and L-homocystine in plasma and urine; and L-methionine and ornithine in plasma.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidase, Betaine--homocysteine S-methyltransferase 1