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[Malignant forms of phenylketonuria].

M G Bliumina

    Zhurnal Nevropatologii I Psikhiatrii Imeni S.S. Korsakova (Moscow, Russia : 1952)
    |January 1, 1984
    PubMed
    Summary

    Malignant phenylketonuria (PKU) is linked to early neurological issues, small head size, and skin lesions. High phenylalanine and low tyrosine levels indicate a severe disease course, potentially stemming from genetic defects in phenylalanine hydroxylase or its cofactor.

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    [Clinical polymorphism of the Waardenburg-Klein syndrome in children].

    Pediatriia·1987

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Context:

    • Phenylketonuria (PKU) is an inherited metabolic disorder.
    • Pernicious PKU represents a severe form of the disease with poor prognosis.
    • Understanding genetic heterogeneity is crucial for effective management.

    Purpose:

    • To identify clinical and biochemical markers associated with malignant phenylketonuria (PKU).
    • To explore the genetic basis of pernicious PKU, including defects in phenylalanine hydroxylase and its cofactor.
    • To establish familial criteria for differentiating genetic forms of pernicious PKU and outline pathogenetic treatment strategies.

    Summary:

    • Forty-eight patients with pernicious PKU were analyzed.
    • Unfavorable prognostic symptoms included early epilepsy, neurological disturbances, microcephaly, and severe eczema.
    • Elevated blood phenylalanine (>30 mg/100 ml) and low tyrosine (<1 mg/100 ml) levels were observed in pernicious PKU patients.
    • Genetic defects in phenylalanine hydroxylase or its cofactor may underlie the malignant course.
    • Familial criteria for genetic form differentiation and pathogenetic treatment methods were presented.

    Impact:

    • Identifies key indicators for predicting severe PKU outcomes.
    • Provides insights into the genetic underpinnings of PKU heterogeneity.
    • Informs the development of targeted treatment strategies for pernicious PKU.
    • Aids in the clinical differentiation of genetic forms of PKU.

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