Abstract
Histidinemia was discovered by Ghadimi et al. (1961) and studied in more detail by Auerbach et al. (1972) and La Du et al. (1963). Histidinemia is due to deficient activity of the enzyme histidase, demonstrable in the liver and stratum corneum, necessary to metabolize histidine to urocanic acid. All of the cases described in those three studies showed cerebral damage. Later histidinemia due to histidase deficiency was also found in undamaged children. Up to 1973 (Thalhammer 1973) about 50% of 56 published cases in 43 families that had not been discovered by mass screening were damaged. No biochemical differences could be found between damaged and undamaged children with histidinemia. The defects, in order of their relative frequency, were: mental retardation, speech defects, and seizures. Ataxia was also described in a few cases.
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References
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© 1980 Springer-Verlag Berlin Heidelberg
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Thalhammer, O. (1980). Neonatal Screening for Histidinemia. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_6
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DOI: https://doi.org/10.1007/978-3-642-67488-4_6
Publisher Name: Springer, Berlin, Heidelberg
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