New Mutation Of Tissue Non Specific Alkaline Phosphatase In Childhood Hypophosphatasia

Hypophosphatasia is a rare inborn error of metabolism characterized bydefective bone and tooth mineralization with a deficiency of serum and tissueliver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. This studyinvolves the identification and confirmation of this disorder in a new borninfant subject by detecting the missing allele and is thought to be a X-linkeddisorder as the same allele is mutated in the mother’s gene.