Abstract | UNLABELLED: We report the case of a male patient with infantile hypophosphatasia associated with severe hypercalcaemia and mild respiratory insufficiency. At the age of 2 months, severe hypercalcaemia, low levels of serum alkaline phosphatase activity, and elevated urinary excretion of calcium and phosphoethanolamine were noted. Radiological findings showed generalized osteopenia and disturbed and irregular ossification of the metaphyses. Their involvement had spontaneously improved at the age of 6 months. A genetic study revealed that the tissue-nonspecific alkaline phosphatase gene of the patient had two novel mutations, K207E and G409C, derived from the mother and father, respectively. A reconsitution experiment revealed that both mutant gene products had low but significant enzymatic activity. CONCLUSION:
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Authors | H Mochizuki, M Saito, T Michigami, H Ohashi, N Koda, S Yamaguchi, K Ozono |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 159
Issue 5
Pg. 375-9
(May 2000)
ISSN: 0340-6199 [Print] Germany |
PMID | 10834525
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Alkaline Phosphatase
(genetics)
- Humans
- Hypercalcemia
(etiology)
- Hypophosphatasia
(complications, genetics)
- Infant
- Male
- Mutation, Missense
- Polymorphism, Genetic
- Respiratory Insufficiency
(etiology)
- Sequence Analysis, DNA
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