Developmental Neuropathology
Chapter 27.3: Disorders of Carbohydrate Metabolism: The Congenital Disorders of Glycosylation
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Inborn errors of metabolism affecting the synthesis and processing of N-linked glycans. This includes all stages from synthesis of nucleotide-linked sugars to final processing in the Golgi apparatus. Technically, this also includes mucolipidoses II (I-cell disease) and III (pseudo-Hurler polydystrophy) due to affected synthesis of mannose-6-phosphate.

O-linked glycan synthesis defects also cause disease, e.g., progeroid form of Ehlers-Danlos sundrome, familial exostosis, Fukuyama muscular dystrophy, Muscle-Eye-Brain disease, Walker Warburg Syndrome, LGMD2I.

Congenital disorders of glycosylation are multisystem disorders, with prominent nervous system involvement. Type Ib has no CNS involvement.


Clinical Features



Immunohistochemistry and Ultrastructural Findings

Differential Diagnosis




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