New mutation of tissue non specific alkaline phosphatase in hypophosphatesia

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