Definition
- Genetic error of the synthesis of alkaline phosphatase
- Autosomally recessive
- Syndrome is similar to rickets
Investigations
- X-ray
- central cup or wedge in metaphysis
- Histology
- large quantities of unmineralized matrix & long columns of maturation
- Alkaline phosphatase is necessary for maturation of the primary spongiosa
- Blood
- Normal Ca
- Normal Vit D
- Normal PTH
- High urine phosphoethanolamine
Treatment
- No definitive therapy