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

2 doctors weighed in

In brief: 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).

In brief: 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).
Dr. Ecaterina Sartina
Dr. Ecaterina Sartina
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Dr. Scott Diede
Pediatrics - Hematology & Oncology

In brief: 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/.

In brief: 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/.
Dr. Scott Diede
Dr. Scott Diede
Thank
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