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.
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Authors | U E Pazzaglia, G Beluffi, C Danesino, P V Frediani, G Pagani, G Zatti |
Journal | Pediatric radiology
(Pediatr Radiol)
Vol. 20
Issue 1-2
Pg. 80-4
( 1989)
ISSN: 0301-0449 [Print] Germany |
PMID | 2602022
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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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)
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