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[Congenital hypophosphatasia].

H G Terheggen, A Wischermann

    Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
    |July 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Hypophosphatasia is an inherited enzyme deficiency causing low alkaline phosphatase and high phosphoethanolamine. Diagnosis involves clinical signs, low enzyme activity, and elevated phosphoethanolamine, with varied forms and prognoses.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Context:

    • Hypophosphatasia is an inherited metabolic disorder.
    • It is characterized by deficient alkaline phosphatase activity.
    • This leads to elevated serum pyrophosphate and urinary phosphoethanolamine.

    Purpose:

    • To classify hypophosphatasia based on clinical presentation and age of onset.
    • To describe the genetic basis and biochemical markers.
    • To outline diagnostic criteria and challenges in heterozygote detection.

    Summary:

    • Four forms of hypophosphatasia are described: prenatal, early infantile, infantile-juvenile, and adult.
    • Clinical manifestations range from severe skeletal deformities and high mortality in infants to milder symptoms like pseudofractures in adults.

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  • Autosomal recessive inheritance is typical, with potential autosomal dominant inheritance in the adult form.

    • Impact:

    • Provides a classification system for hypophosphatasia.
    • Highlights diagnostic challenges, particularly in identifying carriers.
    • Underscores the need for comprehensive biochemical testing for accurate diagnosis and carrier detection.