Phenylketonuria epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Epidemiology and Demographics

Incidence

The incidence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the population of Ireland^[1] to fewer than one in 100,000 births among the population of Finland.^[2]

Gender

Race

Developed Countries

Developing Countries

References

↑ DiLella, A. G., Kwok, S. C. M., Ledley, F. D., Marvit, J., Woo, S. L. C. (1986). “Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene”. Biochemistry. 25: 743–749. PMID 3008810.
↑ Guldberg, P., Henriksen, K. F., Sipila, I., Guttler, F., de la Chapelle, A. (1995). “Phenylketonuria in a low incidence population: molecular characterization of mutations in Finland”. J. Med. Genet. 32: 976–978. PMID 8825928.

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[1] DiLella, A. G., Kwok, S. C. M., Ledley, F. D., Marvit, J., Woo, S. L. C. (1986). “Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene”. Biochemistry. 25: 743–749. PMID 3008810.

[2] Guldberg, P., Henriksen, K. F., Sipila, I., Guttler, F., de la Chapelle, A. (1995). “Phenylketonuria in a low incidence population: molecular characterization of mutations in Finland”. J. Med. Genet. 32: 976–978. PMID 8825928.

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