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Alaninuria, Associated with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus in Two Sisters
  1. L. Stimmler,
  2. N. Jensen,
  3. P. Toseland

    Abstract

    Two sisters, both microcephalic at birth and of low birthweight, are described. They are both severely mentally retarded and dwarfed, and have developed diabetes mellitus. Their teeth show enamel hypoplasia. Excessive quantities of alanine were found in their urine, which was associated with high levels of alanine pyruvate and lactate in the blood.

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