HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Neonatal mucolipidosis 2. The spontaneous evolution of early bone lesions and the effect of vitamin D treatment. Report of two cases.

Abstract
Evolution of the early bone lesions in two children with mucolipidosis 2 was followed from birth. The progression of the bone changes did not differ from healing of rickets. Low levels of 1,25-(OH)2-D3 were found in one child and he was treated with vitamin D; resolution of the rachitic changes was more rapid than in the untreated child. It is suggested that in mucolipidosis 2 bone reacts to two independent factors, one controlling calcium metabolism, the other depending on the primary lysosomal enzyme defect. Since ricket-like features are not present in the other mucolipidoses or mucopolysaccharidoses, the defect of calcium metabolism seems to be related to the specific enzyme defect of mucolipidosis 2.
AuthorsU E Pazzaglia, G Beluffi, C Danesino, P V Frediani, G Pagani, G Zatti
JournalPediatric radiology (Pediatr Radiol) Vol. 20 Issue 1-2 Pg. 80-4 ( 1989) ISSN: 0301-0449 [Print] Germany
PMID2602022 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Vitamin D
Topics
  • Aging (metabolism)
  • Bone Diseases, Metabolic (congenital, diagnostic imaging)
  • Bone and Bones (diagnostic imaging, metabolism)
  • Humans
  • Infant, Newborn
  • Male
  • Mucolipidoses (complications, diagnostic imaging, drug therapy)
  • Osteoporosis (diagnostic imaging, etiology)
  • Radiography
  • Vitamin D (therapeutic use)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: