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413 Possible Causes for L leucinal

  • HMG-CoA Lyase Deficiency

    Abstract 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and l-leucine catabolism, which generally[] […] gene cause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD), a rare autosomal recessive inborn error of metabolism characterized by disruption of ketogenesis and L-leucine[] Condition Description 3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency is an autosomal recessive disorder that affects ketogenesis and L-leucine catabolism[1].[]

  • Maple Syrup Urine Disease

    For all three patients, plasma leucine levels decreased dramatically from 2186, 3818 and 2536 mumol/L to 1131, 1275 and 488 mumol/L, respectively.[] In vivo catabolism was investigated by measuring the metabolic L-alloisoleucine clearance and whole-body leucine oxidation in the postabsorptive state.[] None of the five patients met criteria to be considered presumptive positive for MSUD (leucine 200micromol/L and a ratio of leucine/alanine or 1.5).[]

  • Diamond-Blackfan Anemia

    Furthermore, we showed that loss of Rps19 or Rps14 activates the mTOR pathway, and this is accentuated by L-leucine in both Rps19 and Rps14 morphants.[] Several preclinical studies with DBA lymphocytes exposed to various L-leucine doses, have demonstrated that protein synthesis can be increased by using high doses L-leucine[] L-Leucine treatment alleviated the defects of protein production in erythroid cells and partially rescued the anemic phenotype in both rps19 and rpl11 mutants.[]

  • Orlistat

    -leucine, DIAD, PPh 3 , THF, 0 C, 69%; (d) N -formyl- l -leucine, DIAD, PPh 3 , THF, 0 C, 87%.[] leucine, DIAD, PPh 3 , THF, 0 C, 69%; (d) N -formyl- l -leucine, DIAD, PPh 3 , THF, 0 C, 87%.[] Product Specification Alternative Name: Tetrahydrolipstatin, N-Formyl-L-leucine-(1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester Formula: C 29 H 53 NO 5 MW:[]

  • Isovaleric Acidemia

    Isovaleryl CoA dehydrogenase, which is located in the mitochondria, is important for metabolism of L-leucine.[] Total conjugate excretion was highest after a leucine load during combined glycine and L-carnitine therapy.[] Administration of equimolar amounts of glycine or L-carnitine separately with leucine demonstrated that isovaleryl-coenzyme A is removed by supplemental L-carnitine in the[]

  • Cyanogenic Glycoside

    , Lleucine, L‐phenylalanine, or L‐tyrosine, and cyclopentenyl‐glycine (a nonprotein amino acid) [ 2 , 10 ].[] Despite great deal of structural diversity in cyanogenic glycosides, almost all of them are believed to be derived from only six different amino acids L‐valine, L‐isoleucine[]

  • Leucine-induced Hypoglycemia

    SPONTANEOUS hypoglycemia in infancy may, on rare occasions, be precipitated by the ingestion of casein, L-leucine or isovaleric acid, an intermediary metabolite of leucine[] The idea and the logic in choosing L-Leucine for testing its potential action against occurrence of seizures lie in the fact that L-Leucine is a ketogenic amino acid; its[] Katz LE, Stanley CA Title Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.[]

  • Hyperammonemia

    During hyperammonemia and l-leucine supplementation, protein synthesis, phosphorylation of eIF2α, mTORC1 signaling, l-leucine transport and response to l-leucine supplementation[] 24 1 19 22 22 21 19 3.4 Maximum activity (nmol/mg·min; with ADP, 200 μmol/L) 31 1 40 1 37 1 34 1 42 45 4.4 Leucine SC50 (mmol/L) 0.68 0.63 0.68 0.7 0.7 0.8 0.13 Maximum activity[] Instead, ammonia increased expression of the leucine/glutamine exchanger SLC7A5, l-leucine uptake and intracellular l-leucine levels, the latter not being sufficient to rescue[]

  • Intermittent Maple Syrup Urine Disease

    Whole-body L-leucine oxidation was assessed in patients with maple syrup urine disease of different severity using oral L-[1-(13)C]leucine bolus tests (38 micromol/kg body[] FIGURE 3 Plasma L-leucine concentrations and interorgan relationships of BCAA and BCKA degradation of a classic MSUD patient before and after OLT. ( A ) Plasma L-leucine concentrations[] Importantly, haemofiltration helped to lower her leucine level to well below 1000 μmol/L (leucine 197 μmol/L (32-153), isoleucine 172 μmol/L (35-105), valine 172 μmol/L (68[]

  • Intermediate Maple Syrup Urine Disease

    Safe plasma leucine levels also seemed to be 400–500 μmol/L.[] […] and valine levels may drop rapidly and very low levels (isoleucine 100 umol/L and valine 200 umol/L) will keep the leucine level from dropping by limiting protein synthesis[] 275 to 393 μmol/L.[]

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