Hypophosphatasia
Hypophosphatasia (; also called of alkaline phosphatase, phosphoethanolaminuria, or Rathbun's ; sometimes abbreviated HPP) is a rare, and sometimes fatal, inherited bone disease. symptoms are heterogeneous, ranging from the rapidly fatal, perinatal , with profound hypomineralization, compromise or vitamin B6 dependent to a milder, progressive osteomalacia later in life. non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or osteomalacia. The pathognomonic finding is subnormal serum activity of the TNSALP , which is caused by one of 388 identified to date, in the gene encoding TNSALP. Genetic inheritance is for the perinatal and infantile forms but either autosomal recessive or autosomal in the milder forms.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Variable—may include osteopenia, hypomineralization, compromise
Causes — why it happens
- · of the ALPL gene
How it's found
- ·Comprehensive panel test for serum alkaline phosphatase level; examination of X-rays; tests of ALPL
Treatment
- ·Asfotase alfa (Strensiq), an replacement therapy
Outlook
- ·Severe perinatal forms are lethal without treatment; adult forms may only show moderate symptoms