Hypophosphatasia

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Hypophosphatasia

• By B.M.

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What is it?

• Hypophosphatasia is a metabolic or chemical bone
  disorder

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What does it do?

• Hypophosphatasia results in low levels of an
  enzyme called alkaline phosphase (ALP)
• As we have learned before, enzymes are proteins
  that break down other chemicals in the body

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ALP

• ALP is normally found in large amounts in the
  bones and liver
• In Hypophosphatasia, deformities in the gene that
  makes ALP leads to the production of of inactive
  ALP
• Because of this, several chemicals collect in the
  body and are found in large amounts in the blood
  and urine

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Severity

• The severity of Hypophosphatasia varies from
  person to person
• The worst case of Hypophosphatasia, is when you
  fail to form a skeleton in the womb and are still
  born
• The mildly affected patients may only show low
  levels of ALP in the blood, and be fine

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Odds

• The odds of getting a very severe form of
  Hypophosphatasia is 1 out of 100,000
• The odds of getting a mild form of
  Hypophosphatasia is 1 out of 250 births

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Symptoms

• Deformity of arms, legs, and chest
• Frequent cases of pneumonia if chest is distorted
  
• White eyes
• Premature loss of teeth
• Rodding (when adults have recurring fractures in
  their feet and thighs

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How do you get it?

• To get a severe case of Hypophosphatasia you must
  receive one defective gene from each parent
• In mild cases, the patient must receive one
  defective gene from only one parent

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Cures and Treatments

• There is no cure for Hypophosphatasia
• Doctors recommend that people with
  Hypophosphatasia should have the symptoms treated
• The patient should also seek genetic counseling
  to understand the severity of their case of
  Hypophosphatasia