Maple Syrup
A maple syrup extract alters lipid metabolism in obese type 2 diabetic model mice
... that maple syrup, particularly its polyphenol-enriched extract, could alleviate chronic hyperglycemia in individuals with dia- ...of maple syrup (MSx) contain- ing ...
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Molecular and biochemical basis of intermediate maple syrup urine disease Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic Mexican patients
... Maple syrup urine disease (MSUD) is caused by a deficiency of the mitochondrial branched-chain alpha-keta acid dehydrogenase (BCKAD) complex. The multienzyme complex comprises five enzyme components, ...
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ENU mutagenesis identifies mice with mitochondrial branched chain aminotransferase deficiency resembling human maple syrup urine disease
... human maple syrup urine disease (MSUD), a severe genetic metabolic disorder caused by the deficiency of branched-chain a-keto acid dehydrogenase (BCKD) ...
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Assessing the Growth Potential and Economic Impact of the U.S. Maple Syrup Industry
... U.S. syrup, it would have to add roughly 23 million taps, thereby increasing the utilization rate to ...the maple industry from USD81 million to USD 248 ...importing syrup from Canada and/or increase ...
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Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)
... Routine newborn screening for maple syrup urine disease (MSUD) has been conducted since 1964, and.. more than 9#{189} million newborns throughout the world have been tested with use of a[r] ...
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Successful pregnancy in maple syrup urine disease: a case report and review of the literature
... Keywords: Maple syrup urine disease, MSUD, Pregnancy, Leucine tolerance, Protein tolerance, Branched-chain amino acids, Obstetrics, Metabolic disease.. Background.[r] ...
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Cranial ultrasonography in maple syrup urine disease
... Summary: We performed serial cranial ultrasonography in four newborns affected by maple syrup urine disease. Symmetric increase of echogenicity of periventricular white matter, basal ganglia (mainly ...
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Case report: maple syrup urine disease with a novel DBT gene mutation
... Maple syrup urine disease (MSUD) is a rare meta- bolic disorder of autosomal recessive inheritance caused by decreased activity of the branched-chain α- ketoacid dehydrogenase (BCKD) ...
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Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha keto acid dehydrogenase complex due to aberrant splicing A single base deletion at a 5' splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region
... We have studied the molecular bases of maple syrup urine disease by analyzing the activity, subunit structure, mRNA sequence, and the genome of the affected enzyme. The branched chain alpha-keto acid ...
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Nasogastric Drip Feeding as the Only Treatment of Neonatal Maple Syrup Urine Disease
... Exchange transfusion in acute episodes of maple syrup urine disease: studies on branched chain amino and keto acids. Berry GT, Heidenreich R, Kaplan P[r] ...
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Outcome of Early and Long-Term Management of Classical Maple Syrup Urine Disease
... Response of plasma leucine to acute phase treat- ment of maple syrup urine disease (MSUD) in four in- fants (E.C., T.P., S.B., C.D.).. Time scale indicates interval (in.[r] ...
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E2 transacylase deficient (type II) maple syrup urine disease Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine responsive phenotype
... Maple syrup urine disease (MSUD) or branched-chain a -keto- aciduria is an autosomally inherited disorder in the catabo- lism of branched-chain amino acids leucine, isoleucine, and ...
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Maple syrup urine disease in Mennonites Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched chain alpha keto acid dehydrogenase complex
... Isolation and sequencing of a cDNA encoding the decarboxylase El a precursor of bovine branched-chain a-keto acid dehydrogenase complex: expression of Ela mRNA and subunit in maple syrup[r] ...
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Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
... We report a 17 day old boy, who developed progressive encephalopathy, after an apparent period of normalcy. Magnetic resonance imaging showed diffusion restriction in myelinated areas like, a pattern suggestive of ...
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Maple syrup urine disease Complete primary structure of the E1 beta subunit of human branched chain alpha ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease
... A defect in the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase (BCKDH) complex is one cause of maple syrup urine disease (MSUD). In an attempt to elucidate the molecular basis of MSUD, ...
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The Effect of Maple Syrup Ingestion on Fat Oxidation During Incremental Exercise in Endurance Athletes
... Maple syrup may be a CHO-containing food material that does not inhibit fat oxidation during endurance ...Moreover, maple syrup has a metabolic influence on physiological functions via ...
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Maple syrup urine disease Complete defect of the E1 beta subunit of the branched chain alpha ketoacid dehydrogenase complex due to a deletion of an 11 bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease
... Branched chain alpha-ketoacid dehydrogenase (BCKDH) deficiency results in maple syrup urine disease (MSUD). We examined the molecular basis of familial cases of MSUD by analyzing the activity, subunit ...
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THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (Branched-chain Ketoaciduria)
... Ketoaciduria): BY THE IN VITRO STUDY OF THE PERIPHERAL LEUKOCYTE THE DIAGNOSIS OF MAPLE SYRUP URINE DISEASE (Branched-chain. http://pediatrics.aappublications.org/content/32/2/234[r] ...
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Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease
... Maple syrup urine disease (MSUD) results from a deficiency of branched chain alpha- ketoacid dehydrogenase (BCKDH). We have studied the etiology of MSUD by determining the enzyme activity, protein, and mRNA ...
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Maple syrup urine disease: mechanisms and management
... Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive disease characterized by disruption of the normal activity of the branched-chain α -ketoacid dehydrogenase (BCKAD) complex, the second ...
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