Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

@article{Kelley2002AmishLM,
  title={Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.},
  author={R. Kelley and D. Robinson and E. Puffenberger and K. Strauss and D. Morton},
  journal={American journal of medical genetics},
  year={2002},
  volume={112 4},
  pages={
          318-26
        }
}
  • R. Kelley, D. Robinson, +2 authors D. Morton
  • Published 2002
  • Medicine
  • American journal of medical genetics
  • A new metabolic disorder characterized by severe congenital microcephaly, death within the first year, and severe 2-ketoglutaric aciduria has been found among the Old-Order Amish of Lancaster County, Pennsylvania. Amish lethal microcephaly segregates as an autosomal recessive disorder and has an unusually high incidence of at least 1 in 500 births. When the infants are well, the urine organic acid profiles show isolated, extreme elevations of 2-ketoglutaric acid. However, during otherwise… CONTINUE READING
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