Description of the mutations in 15 subjects with variant forms of maple syrup urine disease

Author:

Flaschker N.,Feyen O.,Fend S.,Simon E.,Schadewaldt P.,Wendel U.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Aevarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WG (2000) Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. Structure 18: 277-91.

2. Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill 1971–2005.

3. Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT (1995) Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1α locus of Hispanic-Mexican patients. J Clin Invet 95: 934-63.

4. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA (2001) Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 69: 863-68.

5. Fisher CW, Fisher CR, Chuang JL, Lau KS, Chuang DT, Cox RP (1993) 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 urine disease: multiple-exon skipping as a secondary effect of the mutations. Am J Hum Genet 52: 414-24.

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