Document Detail

Hypophosphatasia in an adult: a case report.
MedLine Citation:
PMID:  1865578     Owner:  NLM     Status:  MEDLINE    
In this rare case of adult hypophosphatasia, no radiological abnormalities of the skeletal system could be detected even by dual energy X-ray absorptiometry. Severe dental caries was the sole clinical manifestation, indicating this case as an "odontohypophosphatasia". The levels of serum osteocalcin were low, which may be a useful biochemical marker to diagnose hypophosphatasia. Southern blot analyses of the genomic DNA revealed no gross abnormalities. Thus, hypophosphatasia in this patient was presumed to be caused by point mutations or small deletions. In a review of previous reports, an increased incidence among women was found.
M Nangaku; N Sato; K Sugano; F Takaku
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Japanese journal of medicine     Volume:  30     ISSN:  0021-5120     ISO Abbreviation:  Jpn. J. Med.     Publication Date:    1991 Jan-Feb
Date Detail:
Created Date:  1991-09-11     Completed Date:  1991-09-11     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0247713     Medline TA:  Jpn J Med     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  47-52     Citation Subset:  IM    
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
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MeSH Terms
Alkaline Phosphatase / blood,  deficiency*,  genetics
Bone Density
DNA / analysis
Ethanolamines / urine
Hypophosphatasia* / complications,  genetics,  metabolism,  pathology
Middle Aged
Osteocalcin / blood
Sex Factors
Tooth Loss / etiology*
Reg. No./Substance:
0/Ethanolamines; 104982-03-8/Osteocalcin; 1071-23-4/phosphorylethanolamine; 9007-49-2/DNA; EC Phosphatase

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