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27 Possible Causes for L methylmalonyl CoA, metabolism

  • Osteoporosis

    L-methylmalonyl-CoA mutase converts L-methylmalonyl-CoA to succinyl-CoA in the degradation of propionate [ 3 , 5 , 6 ], an essential biochemical reaction in fat and protein[] […] with respect to BMD at different sites and ultrasound transmission through the peripheral skeleton, and to use PTH, total serum calcium, and biochemical markers of bone metabolism[] While renal metabolism represents the principal mechanism by which fixed metabolic acid loads are handled by the body, renal buffering may be incomplete, particularly with[]

  • Methylmalonic Acidemia

    This mitochondrial enzyme converts L-methylmalonyl-CoA to succinyl-CoA using adenosylcobalamin (Adocbl) as cofactor.[] An inborn error of metabolism leading to chronic metabolic acidosis. Statistics from This is a PDF-only article.[] Abstract Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits.[]

  • Methylmalonic Aciduria Type cblA

    Abstract Methylmalonic acidemia (MMA) is caused by a deficiency in the activity of L -methylmalonyl-CoA mutase (MCM), a vitamin B12 (or cobalamin, Cbl)-dependent enzyme.[] The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel.[] Blocks in either class of genetic defects results in the dysfunction of the MCM enzyme, responsible for the isomerization of L-methylmalonyl-CoA to succinyl-CoA in the propionate[]

  • Propionic Acidemia

    With methylmalonyl-CoA concentrations of 0.05, 0.5, and 5μmol/L, the intra-assay coefficients of variation (CVs) were 8.2%, 8.7%, and 5.1%, respectively, and the inter-assay[] Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively.[] Abstract Carnitine metabolism was studied in a 7-y-old boy with propionic acidemia due to an almost total deficiency of propionyl-CoA carboxylase.[]

  • Isovaleric Acidemia

    […] acid Tiglyl-CoA H 2 O 2-Methyl-3-hydroxybutyryl-CoA NAD 2-Methylacetoacetyl-CoA NADH CoA H 2 O NAD CoA NADH Hydrogen carbonate ATP Hydrogen carbonate S-Methylmalonyl-CoA[] This enzymatic deficiency leads to severe metabolic derangement, manifested clinically as vomiting, dehydration, and acidosis progressing to seizures, coma, and death.[] Inhibitory effects of methylenecyclopropylacetic acid on leucine metabolism in normal cells were also investigated.[]

  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    Following racemization, L-methylmalonyl-CoA is converted to succinyl-CoA via the enzyme L-methylmalonyl-CoA mutase (E.C., which requires adenosylcobalamin for activity[] […] insight into the problems associated with metabolic diseases.[] Patients with MMA are managed by the multidisciplinary team and we liaise closely with the Metabolic Laboratory to ensure close monitoring of these patients.[]

  • Organic Aciduria

    L-carnitine (oral or intravenous) to conjugate and detoxify propionyl-CoA and methylmalonyl-CoA, thus forming propionylcarnitine and methylmalonylcarnitine and reducing propionic[] It is now imbedded in the environment of Springer Pediatric Metabolic Medicine in addition to the disease-based approach in Inborn Metabolic Diseases edited by John Fernandes[] […] were associated with three differential diagnosis : propionic acidemia (propionyl CoA carboxylase deficiency), Methylmalonic acidemia (methylmalonyl CoA mutase deficiency[]

  • Succinic Acidemia

    Methylmalonic acidemia (MMA) can be caused by an inherited deficiency of methylmalonyl-CoA mutase, an adenosylcobalamin-requiring enzyme that converts L-methylmalonyl-CoA[] […] a patient with a possible metabolic epilepsy[] Inborn errors of metabolism contribute significantly to this total.[]

  • Cytosolic Acetoacetyl-CoA Thiolase Deficiency

    Ketoleucine L-Glutamic acid L-Isoleucine L-Leucine L-Valine Lipoamide Lipoyl-GMP Methacrylyl-CoA Methylmalonic acid Molybdopterin NAD NADH Oxoglutaric acid Oxygen Phosphate[] Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism.[] This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure.[]

  • Xanthinuria Type 1

    Ammonia Biotin Coenzyme A FAD Hydrogen Hydrogen carbonate L-Threonine NAD NADH Propionyl-CoA Pyridoxal 5'-phosphate R-Methylmalonyl-CoA S-Methylmalonyl-CoA Succinyl-CoA Thiamine[] Arabinoside 647 Role of Deoxycytidine Kinase dCK Thymidine Kinase 2 TK2 657 Increased Activity of Cytidine Triphosphate Synthetase in Pediatric Acute 667 5FU Prodrugs 677 Metabolic[] Defects in metabolism of carbohydrates Intestinal defects of carbohydrate metabolism Defetcs in intermediary carbohydrate metabolism Defetcs without lactic acidosis or abnormal[]

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