What does PDDR mean in UNCLASSIFIED
Pseudovitamin D deficiency rickets (PDDR) is a rare genetic disorder that results in a lack of vitamin D. It occurs when the body does not produce enough of an enzyme called 25-hydroxyvitamin D-1 alpha hydroxylase, which is necessary to transform vitamin D into its active form. People with this disorder may experience low levels of calcium and phosphate in their blood and may develop soft bones and other medical issues.
PDDR meaning in Unclassified in Miscellaneous
PDDR mostly used in an acronym Unclassified in Category Miscellaneous that means Pseudovitamin D deficiency rickets
Shorthand: PDDR,
Full Form: Pseudovitamin D deficiency rickets
For more information of "Pseudovitamin D deficiency rickets", see the section below.
Essential Questions and Answers on Pseudovitamin D deficiency rickets in "MISCELLANEOUS»UNFILED"
What is PDDR?
PDDR stands for Pseudovitamin D deficiency rickets, which is a rare genetic disorder that results in a lack of vitamin D.
What causes PDDR?
The cause of PDDR is due to mutations in the CYP27B1 gene, which leads to a decrease or absence of an enzyme called 25-hydroxyvitamin D-1 alpha hydroxylase, which is necessary to convert vitaminD into its active form.
What are the symptoms of PDDR?
Symptoms associated with PDDR include skeletal deformities such as bowed legs and stunted growth, low levels of calcium and phosphate in the blood, recurrent infections, anemia, delayed puberty, muscle weakness and fatigue.
How is PDDR diagnosed?
Diagnosis of PDDR usually requires laboratory testing to measure levels of calcium, phosphorus and alkaline phosphatase in the blood. Genetic testing can also be used to confirm a diagnosis.
How is PDDR treated?
Treatment involves taking supplemental forms of vitamin D such as ergocalciferol or calcifediol orally or through injections to correct the deficiency. Additionally, dietary changes may be recommended such as increasing intake of foods rich in vitamins and calcium such as dairy products or fortified cereals. In cases where bone deformities occur physical therapy may be prescribed.
Final Words:
PDDR is an inherited condition caused by mutations on the CYP27B1 gene which affects how much active vitaminD can be produced by the body. It is important for people who suspect they have this condition to see their doctor right away so that they can begin treatment before any permanent damage occurs.