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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
1-alpha-hydroxylase deficiency

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Description

Type 1A vitamin D hydroxylation-deficient rickets is a rare genetic disorder caused by a mutation in the CYP27B1 gene. This gene is responsible for the production of an enzyme called 25-hydroxyvitamin D-1-alpha-hydroxylase, which is responsible for the hydroxylation of vitamin D in the body. When this enzyme is not produced, the body is unable to convert vitamin D into its active form, leading to a deficiency of vitamin D and a lack of calcium absorption. This can cause a variety of symptoms, including softening of the bones, skeletal deformities, and stunted growth. Treatment typically involves taking vitamin D supplements and calcium supplements to help the body absorb the nutrients it needs.

Synonyms
  • PDDR1A
  • PDDR IA
  • selective 1-alpha-25-hydroxyvitamin D3 deficiency
  • Type 1 vitamin D dependency
  • Type 1A vitamin D-dependent rickets
  • Type 1A vitamin D hydroxylation-deficient rickets
  • Type IA pseudovitamin D-deficiency rickets
  • Type I vitamin D-dependent rickets
  • VDD1
  • VDDR1A
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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