A member asked:

How are diagnoses of lysosome storage disorders differentiated from congenital disorders of glycosylation? references?

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See links: This is a very complex topic (as you probably already know). For lysosome storage disorders: http://emedicine.Medscape.Com/article/1182830-overview for disorders of glycosylation, see: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1332/.

Answered 1/19/2013

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Dr. Ecaterina Sartina answered

Specializes in Pediatrics

Difficult to differe: Lysosome storage disease, congenital disorders of glycosylation (cdg), peroxisomal disorders, smith-lemli-opitz are "single-gene disorders, most of which demonstrate autosomal-recessive inheritance. These 4 categories of metabolic diseases involve molecules important in cell membranes and share overlapping clinical presentations". (avery's diseases of the newborn, by w. Taeusch, 2005, p. 258).

Answered 12/9/2013

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