Hypophosphatasia in an adult: a case report.
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.
Nangaku
M
M
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Sato
N
N
Sugano
K
K
Takaku
F
F
D000469:Alkaline Phosphatase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D015519:Bone Density; D004247:DNA / Q000032:analysis; D004983:Ethanolamines / Q000652:urine; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D015994:Incidence; D008875:Middle Aged; D015675:Osteocalcin / Q000097:blood; D012737:Sex Factors; D016388:Tooth Loss / Q000209:etiology*
D004983:Ethanolamines; D015675:Osteocalcin; C005448:phosphorylethanolamine; D004247:DNA; D000469:Alkaline Phosphatase