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July 1975

Histidinemia: Classical and Atypical Form in Siblings

Author Affiliations

From the Department of Pediatrics, Hokkaido University, School of Medicine, Sapporo, Hokkaido, Japan.

Am J Dis Child. 1975;129(7):858-861. doi:10.1001/archpedi.1975.02120440074017

Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.

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