Hypophosphatasia

What is Hypophosphatasia?

Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life. Tissue 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 enzyme, which is caused by one of 200 genetic mutations identified to date in the gene encoding TNSALP. Genetic inheritance is autosomal recessive for the perinatal and infantile forms but either autosomal recessive or autosomal dominant in milder forms. The prevalence of hypophosphatasia is not known. One study estimated the live birth incidence of severe forms to be 1:100,000.

Questions and answers on "Hypophosphatasia"

My 7 year old son had blood work done 3 days ago.. He presented with Knee pain and Dr. ordered it as a precaution. His Alkaline Phosphatase came...

doctor1 MD

Hi, thanks for using healthcare magic

Alkaline phosphatase is one of the enzymes normally seen in the body. It is responsible for removing...

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I recently had a home exam due to getting a new life insurance policy. They came and took blood and urine. I got the lab results in the mail and...

doctor1 MD

Hello,

Thank you for posting your query.
If from all lab tests just ALP ranges is low , then don't worry, this is not an emergency and you can wait...

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doctor1 MD

My 7 year old son had blood work done 3 days ago.. He presented with Knee pain and Dr. ordered it as a precaution. His Alkaline Phosphatase came...

doctor1 MD

I recently had a home exam due to getting a new life insurance policy. They came and took blood and urine. I got the lab results in the mail and...

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