Ontology highlight
ABSTRACT:
SUBMITTER: Edelmann L
PROVIDER: S-EPMC1226071 | biostudies-literature | 2001 Oct
REPOSITORIES: biostudies-literature
Edelmann L L Wasserstein M P MP Kornreich R R Sansaricq C C Snyderman S E SE Diaz G A GA
American journal of human genetics 20010816 4
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1beta subunit was sequenced. Three novel m ...[more]