Vitamin D-Dependent Rickets Type 1: A Rare, but Treatable, Cause of Severe Hypotonia in Infancy

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Vitamin e and mild hypotonia

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If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click on download. Clinical presentation is characterized by early onset of severe rickets and can include severe hypotonia.

Here, we report a month-old white male who presented with severe muscle weakness, failure to thrive, renal tubular dysfunction, and skeletal deformities, including osteopenia and multiple fractures. At presentation, vitamin e and mild hypotonia, he had severe hypocalcemia, hypophosphatemia, hypomagnesemia, and elevated alkaline phosphatase and parathyroid hormone levels, vitamin e and mild hypotonia, although normal hydroxyvitamin D levels.

Once calcitriol therapy was initiated, the patient showed significant improvement in muscle strength and linear growth. Serum calcium, phosphorous, and alkaline phosphatase returned to normal range. Organic aciduria resolved and aminoaciduria significantly improved 2 months after parathyroid hormone levels normalized. Skip to main content. Journal of Child Neurology. Cookies Notification This site uses cookies. By continuing to browse the site you are agreeing to our use of cookies.

Vitamin D-Dependent Rickets Type 1: Vol 26, Issue 12, pp. Download Citation If you have similarities polyphenols and vitamin c appropriate software installed, you can download article citation data to the citation manager of your choice. Via Email All fields are required. Send me vitamin e and mild hypotonia copy Cancel. Request Permissions View permissions information for this article.

Article first published online: June 23, ; Issue published: December 1, Received: February 28, ; Revisions received: April 11, ; Accepted: Abstract Full Vitamin e and mild hypotonia Abstract. Remember me Forgotten your password? Subscribe to this journal. Vol 26, Issue 12, Tips on citation download.

Ziambaras, K, Dagogo-Jack, S. Reversible muscle weakness in patients with vitamin D deficiency. Google ScholarMedline.

An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: Frasier, DR, Kodicek, E. Google ScholarCrossref. Site of 1,25 OH 2 vitamin D3 synthesis in the kidney. Google ScholarCrossrefMedline.

Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families. Am J Hum Topamax and prozac. Protein structure prediction servers at University College London. Deletion of vitamin D receptor gene in mice results in abnormal skeletal muscle development with deregulated expression of myoregulatory transcription factors.

Hypophosphatemia is responsible for skeletal muscle weakness of vitamin D deficiency. Myopathy in bone loss of ageing: Nutritional rickets in African American breast-fed infants. J Clin Endocrinol Metab. Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning.


Vitamin e and mild hypotonia