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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.
Insights
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.
Abstract:
Hypophosphatasia was diagnosed in two boys aged four months and two years. This is a rare hereditary bone disease characterized by deficient activity of enzyme alkaline phosphatase. Increased levels of substrates of this enzyme are found: phosphoethanolamine in urine and pyridoxal phosphate in serum. Patients show defective bone mineralization, which results in severe deformities of limbs, thorax and skull and dental abnormalities (loss of teeth and caries). The disease is classified in four age-related forms: perinatal, infantile, childhood and adult hypophosphatasia. The perinatal form is usually lethal. There is no curative therapy. Recognition of the disease is of importance for genetic counselling.