Maple syrup urine disease
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 ...
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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 ...The ...
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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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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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Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
... of maple syrup urine ...and urine for gas chromatography mass spectrometry confirmed elevation and excretion of branched chain amino acids ...
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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, ...
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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) ...
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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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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 α-keto acid dehydrogenase (BCKD) ...
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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, ...
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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 ...
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Altered kinetic properties of the branched chain alpha keto acid dehydrogenase complex due to mutation of the beta subunit of the branched chain alpha keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease
... Branched-chain alpha-keto acid dehydrogenase BCKDH complexes of lymphoblastoid cell lines derived from patients with classical maple syrup urine disease MSUD phenotypes were studied in t[r] ...
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Brain–blood amino acid correlates following protein restriction in murine maple syrup urine disease
... Keywords: Maple syrup urine disease (MSUD), Branched-chain keto-acid dehydrogenase (BCKDH) complex, Mouse model, Large neutral amino acid transporter (LAT-1), Branched-chain amino acids [r] ...
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Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment
... MSUD: Maple syrup urine disease; NO: Nitric oxide; Orn: Ornithine; Phe: Phenylalanine; PPV: Pars plana vitrectomy; Pro: Proline; RRD: Rhegmatogenous retinal detachment; Ser: Serine; SRF: ...
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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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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 ...
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Glucose and Alanine Metabolism in Children with Maple Syrup Urine Disease
... In vitro studies have suggested that catabolism of branched chain amino acids is linked with alanine and glutamine formed in, and released from, muscle. To explore this possibility in vivo, static and kinetic studies ...
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Maple syrup urine disease: mechanisms and management
... Abstract: Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the ...
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Intermittent Maple Syrup Urine Disease: Two Case Reports
... 3. Fisher CW, Fisher CR, Chuang JL, Lau KS, Chuang DT, Cox RP. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup ...
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