Phenylketonuria E70.00

Fölling, 1934; Jervis, 1953; Morgan 1786;

Worldwide spread. Most common genetic defect of amino acid metabolism. Incidence (Germany): 1/5.000-16.000 births. More frequent in the population of Turkish origin (especially due to the increased incidence of consanguine marriages).

Integument: Light skin, light blond hair, blue eyes (lack of tyrosine leads to reduced melanin synthesis). Sensitivity to light, hyperhidrosis with a mouse-like odor. Dry, pityriasiform reed skin. In 20-50% of cases symptoms of atopic eczema.

Extracutaneous manifestations: among others oligophrenia, seizures.

Skin changes: Skin care with oily external agents (e.g. base cream (DAC), ash base ointment, linola cream). Oil baths such as Balneum Hermal F, Linola Fett N oil bath.

Start early with a diet low in phenylalanine! Purchase of suitable food from pharmacies and hospitals. Manufacturer: e.g. SHS-Gesellschaft für klinische Ernährung mbH, Happenbacher Str. 5, 74074 Heilbronn, P.O. Box 3061.

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2. Fölling A (1934) On the excretion of phenylpyruvic acid in the urine as a metabolic abnormality in combination with imbecillization. Hoppe-Seylers Z Physiol Chem 227: 169-176
3. Jervis GA (1953) Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proc Soc Exper Biol Med 82: 514-515
4. Jervis GA (1955) Studies on phenylpyruvic oligophrenia: the position of the metabolic error. J Biol Chem 169: 651-656
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8. Wilcken B et al (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304-2312