Clinical features of congenital disorders of glycosylation by group

CDG group	Age at presentation	Presenting clinical manifestations	Imaging findings	Laboratory findings
N-linked CDGs	Primarily infancy	Multisystem, including: Developmental delay Other neurologic involvement (brain anomalies, hypotonia, and seizures) Musculoskeletal and connective tissue features Faltering growth Immunologic, hepatic, kidney, skin, and eye manifestations	Brain findings on MRI (eg, cerebellar atrophy with PMM2-CDG)	Increased AST and ALT Decreased albumin Low pro- and anticoagulation proteins Hypoglycemia Increased FSH and LH and decreased estradiol in females Increased FSH and decreased testosterone in males
O-linked CDGs	Infancy through childhood*	All affect skeletal and connective tissue; involvement of the eye and brain is seen in some types: O-mannosylation defects – Muscular dystrophies of different severities O-xylosylation defects – Mainly skeletal and connective tissue changes O-fucosylation defects – Syndrome with anterior chamber defects of the eye, variable intellectual disability, dysmorphic facial features, short stature, and frequently cleft lip and/or palate; other disorder with reticulate pigmentation O-galactosylation defects – Hyperphosphatemic disorders	Cobblestone lissencephaly Severe cerebellar and brainstem hypoplasia Hydrocephalus Frontoparietal polymicrogyria	Unique laboratory findings in a few O-linked CDGs (refer to UpToDate CDG topic discussion of laboratory findings in O-linked CDGs)
GPI anchor CDGs	Infancy	Global developmental delay/intellectual disability Dysmorphic features Congenital anomalies, particularly anorectal	Thin corpus callosum and delayed myelination on MRI	Hyperphosphatasemia Hypertriglyceridemia
Lipid glycosylation CDGs	Infancy	Intellectual disability with epilepsy or complex hereditary spastic paraplegia Poor feeding and faltering growth	MRI ranges from normal to white matter hyperintensities, slightly large corpus collosum, and cortical or subcortical atrophy	No unique laboratory findings
CDGs affecting multiple pathways	Infancy through childhood	Multisystem, including neurologic, bone marrow, skin, cardiac, and skeletal systems	Brain differences seen on MRI in some types	No unique laboratory findings

CDG: congenital disorder of glycosylation; MRI: magnetic resonance imaging; PMM2: phosphomannomutase 2; AST: aspartate aminotransferase; ALT: alanine aminotransferase; FSH: follicle-stimulating hormone; LH: luteinizing hormone; GPI: glycosylphosphatidylinositol.

* Fukutin-related protein (FKRP) can present in adulthood.

Graphic 140150 Version 1.0

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Clinical features of congenital disorders of glycosylation by group