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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)

• plasma
  •      parathyroid hormone
• serum
  •      total alkaline phosphatase
  •      calcitriol
  •      phosphate
  •      calcium
• urine
  •      total amino acids
  •      hydroxyproline
  •      cloudy urine
  •      urine color

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: