A Case of Vitamin D Dependency Type I

Hereditary Pseudo-Deficiency Rickets or Vitamin D-Dependency Type I

Following the description in 1937 by Albright, Butler, and Bloomberg (1) of "rickets resistant to vitamin D," a number of observations were published, particularly by Van Crefeld and Arons (2), Fraser and Salter (3), and by Royer (4) which indicated that there was a variant of resistant rickets which differed from classical hereditary hypophosphatemic vitamin D-resistant rickets by its clinical...

Vitamin D dependent rickets type I

Vitamin D is present in two forms, ergocalciferol (vitamin D(2)) produced by plants and cholecalciferol (vitamin D(3)) produced by animal tissues or by the action of ultraviolet light on 7-dehydrocholesterol in human skin. Both forms of vitamin D are biologically inactive pro-hormones that must undergo sequential hydroxylations in the liver and the kidney before they can bind to and activate th...

Oral and dental manifestations of vitamin D-dependent rickets type I: report of a pediatric case.

Vitamin D-dependent rickets type I (VDDRI) represents an autosomal recessive hereditary defect in vitamin D metabolism. Patients with VDDRI have mutations of chromosome 12 that affect the gene for the enzyme 1-alpha-hydroxylase, resulting in decreased levels of 1,25(OH)(2) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open fontan...

First Australian report of vitamin D-dependent rickets type I.

A 20-month-old white Australian girl presented to the Women’s and Children’s Hospital in Adelaide, South Australia, with a 6-month history of developmental regression of gross motor skills, failure to thrive and irritability, in particular distress when “she was wearing her shoes”. At 14 months of age, she had been crawling, pulling to stand and cruising, but at presentation her gross motor ski...

Type I diabetes in children and vitamin D.