October 1969, Vol 118, No. 4 >

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Article | October 1969

Persistent Mild Hyperphenylalaninemia in Various Ethnic Groups in Israel

Arieh Szeinberg, PhD; Bernard E. Cohen, MB, ChB, MRCP(E), DCH, DPH; Rachel Golan, MSc; Ilana Peled, MSc; Uri Lavi, MD; Moshe Crispin, MSc

Am J Dis Child. 1969;118(4):559-564. doi:10.1001/archpedi.1969.02100040561003.

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CLASSICAL PHENYLKETONURIA (PKU) may be defined as a hereditary metabolic disorder due to phenylalanine hydroxylase deficiency, leading to persistently very elevated blood phenylalanine levels (above 20 mg/100 cc) and urinary excretion of phenylpyruvic acid. Recently introduced programs for mass screening of newborn for the detection of this disease revealed that hyperphenylalaninemia may represent a sign of several distinct disorders.^1-4 In the present communication, we report on the occurrence of a type named "persistent mild hyperphenylalaninemia"⁴ in the Israeli population. The genetic nature of this type is discussed.

Methods Screening for PKU in the newborn was performed by the method of Guthrie and Susi⁵ usually at the age of 3 to 5 days. When a presumptive positive result was observed, additional samples of blood dried on filter paper were requested and examined by the Guthrie method as well as a paper chromatographic screening procedure for amino acids.⁶

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Szeinberg A, Cohen BE, Golan R, Peled I, Lavi U, Crispin M. Persistent Mild Hyperphenylalaninemia in Various Ethnic Groups in Israel. Am J Dis Child. 1969;118(4):559-564. doi:10.1001/archpedi.1969.02100040561003.

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