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[Childhood hypophosphatasia]
A L Mulder1, S N van den Bos, G P Gerrits
1Ziekenhuis De Wever en Gregorius, afd. Kindergeneeskunde, Heerlen.
Nederlands Tijdschrift Voor Geneeskunde
|July 5, 1997
Summary
Hypophosphatasia, a rare genetic bone disorder, causes defective mineralization due to low alkaline phosphatase activity. Early recognition is vital for genetic counseling as no cure exists.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hypophosphatasia is a rare, inherited metabolic bone disorder.
- It stems from deficient activity of the enzyme alkaline phosphatase.
Observation:
- Two boys, aged four months and two years, were diagnosed with hypophosphatasia.
- Clinical manifestations included defective bone mineralization leading to severe skeletal and dental deformities.
Findings:
- Elevated urinary phosphoethanolamine and serum pyridoxal phosphate levels were observed.
- The disease presents in four forms, with the perinatal type often being lethal.
Implications:
- There is currently no curative therapy for hypophosphatasia.
- Accurate diagnosis is crucial for effective genetic counseling and management strategies.