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 , ranging from the rapidly fatal, perinatal , with profound hypomineralization, compromise or vitamin B6 dependent to a milder, progressive later in life. non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone , leading to rickets or osteomalacia. The pathognomonic finding is subnormal 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 , hypomineralization, compromise
Causes — why it happens
- · of the ALPL gene
How it's found
- ·Comprehensive panel test for 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