Alaninuria (with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus)
Reference work entry
First Online:
DOI: https://doi.org/10.1007/978-1-4020-6754-9_447
The autosomal recessive condition is accompanied by the clinically demonstrable excessive amounts of alanine, pyruvate and lactate in the blood and urine. Both lactate and alanine are derived from pyruvate. alanine aminotransferase, amino acid metabolism, alanine, hypoplasia, diabetes
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© Springer Science+Business Media 2008