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Corticosterone Methyl Oxidase I Deficiency (CMO I)
smpdb.ca/view/SMP0000577DiseaseCorticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused … This leads to a decrease in the amount of aldosterone present in the cells, which is responsible for an increased amount of salt excreted in the urine, known as salt wasting.
Corticosterone Methyl Oxidase II Deficiency (CMO II)
smpdb.ca/view/SMP0125802DiseaseHowever, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. … Aside salt-wasting and potential failure to thrive as an infant due to this, there are no symptoms, such as genital abnormalities, that are seen in similar salt-wasting disorders like CYP21 deficiency.
2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0000137DiseaseSymptoms include cerebal atrophy, motor and mental retardation, overactivity and behavior issues, seizures and progressive neurological defects leading to early death. … A deficiency in this enzyme results in accumulation of L-lactic acid in blood, spinal fluid, and urine; 2-ethylhydracrylic acid, 2-methyl-3-hydroxybutyric acid, and tiglylglycine in urine.
Corticosterone Methyl Oxidase II Deficiency (CMO II)
smpdb.ca/view/SMP0000578DiseaseHowever, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. … Aside salt-wasting and potential failure to thrive as an infant due to this, there are no symptoms, such as genital abnormalities, that are seen in similar salt-wasting disorders like CYP21 deficiency.
2-Methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
smpdb.ca/view/SMP0125658DiseaseSymptoms include cerebal atrophy, motor and mental retardation, overactivity and behavior issues, seizures and progressive neurological defects leading to early death. … A deficiency in this enzyme results in accumulation of L-lactic acid in blood, spinal fluid, and urine; 2-ethylhydracrylic acid, 2-methyl-3-hydroxybutyric acid, and tiglylglycine in urine.
Corticosterone Methyl Oxidase I Deficiency (CMO I)
smpdb.ca/view/SMP0125801DiseaseCorticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused … This leads to a decrease in the amount of aldosterone present in the cells, which is responsible for an increased amount of salt excreted in the urine, known as salt wasting.
Acylcarnitine 11-(3-methyl-5-propylfuran-2-yl)undecanoylcarnitine
smpdb.ca/view/SMP0123469MetabolicThis reaction can occur in both directions, and L-acetylcarnitine and CoA can react to form acetyl-CoA and L-carnitine in certain circumstances. … 11-(3-methyl-5-propylfuran-2-yl)undecanoylcarnitine is an acylcarnitine.
Drugs: Biotin · Adenosine phosphate · ATP · Levocarnitine · Magnesium cation · Pyrophosphoric acid +1 moreAcylcarnitine 13-(3-methyl-5-propylfuran-2-yl)tridecanoylcarnitine
smpdb.ca/view/SMP0123504MetabolicThis reaction can occur in both directions, and L-acetylcarnitine and CoA can react to form acetyl-CoA and L-carnitine in certain circumstances. … methyl-5-propylfuran-2-yl)tridecanoyl-CoA and L-carnitine. 13-(3-methyl-5-propylfuran-2-yl)tridecanoyl-CoA then enters into the mitochondrial beta-oxidation pathway to form aceytl-CoA.
Drugs: Biotin · Adenosine phosphate · ATP · Levocarnitine · Magnesium cation · Pyrophosphoric acid +1 moreAcylcarnitine 7-(3-methyl-5-propylfuran-2-yl)heptanoylcarnitine
smpdb.ca/view/SMP0123519MetabolicThis reaction can occur in both directions, and L-acetylcarnitine and CoA can react to form acetyl-CoA and L-carnitine in certain circumstances. … 7-(3-methyl-5-propylfuran-2-yl)heptanoylcarnitine is an acylcarnitine.
Drugs: Biotin · Adenosine phosphate · ATP · Levocarnitine · Magnesium cation · Pyrophosphoric acid +1 moreAcylcarnitine 9-(3-methyl-5-pentylfuran-2-yl)nonanoylcarnitine
smpdb.ca/view/SMP0123573MetabolicThis reaction can occur in both directions, and L-acetylcarnitine and CoA can react to form acetyl-CoA and L-carnitine in certain circumstances. … 9-(3-methyl-5-pentylfuran-2-yl)nonanoylcarnitine is an acylcarnitine.
Drugs: Biotin · Adenosine phosphate · ATP · Levocarnitine · Magnesium cation · Pyrophosphoric acid +1 more