Acid mucopolysaccharides in fibroblast cultures

Kittlick, P.D.; Neupert, G; Bolck, F.

doi:10.1016/s0014-4908(76)80020-8

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1979

1985

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“…In the literature, there are only limited observations of MPS metabolism in these disorders, although this has been well studied in other osteochondrodysplasias (Brill et al 1975, Masuda et al 1975, and Stanescu & Maroteaux 1975. It is also possible that this discrepancy may be due to alterations in growth conditions (Kittlick et al 1976a b). This is in direct opposition to our observations and may reflect heterogeneity within this clinical grouping.…”

Section: Dlscusslonmentioning

confidence: 99%

Mucopolysaccharides in osteochondrodysplasias

1979

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Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesis imperfecta congenita. Accumulation of both sulfated and non-sulfated MPS, as well as secretion of total MPS, was normal in chondrodysplasia punctata of the rhizomelic type and in thanatophoric dysplasia. Accumulation of both sulfated and non-sulfated MPS was normal in campomelic dysplasia. Lastly, accumulation of sulfated MPS was normal in osteogenesis imperfecta congenita.

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Section: Dlscusslonmentioning

confidence: 99%