. Author manuscript; available in PMC: 2022 Feb 1.

Published in final edited form as: Mol Genet Metab. 2021 Jan 9;132(2):49–58. doi: 10.1016/j.ymgme.2021.01.002

Table 1:

Features that may help in distinguishing GD2 from GD3

Feature	Suggestive of GD2	Suggestive of GD3
Genotype	p.L483P/null or null/null; p.D448H+ p.H294Q /p.D448H +p.H294Q	p.L483P/p.L483P; p.D448H/p.D448H
Presentations	Hydrops fetalis; Congenital ichthyosis; Organomegaly; Thrombocytopenia; Biliary atresia; Failure to thrive	Organomegaly; Anemia; Thrombocytopenia
Eye findings	Squint; Strabismus; Slowed or absent saccades (both horizontal and vertical	Slowed horizontal saccades; White retinal opacities; Corneal opacities (GD3c)
ENT	Stridor; Swallowing issues and related feeding difficulties (often described as ‘reflux’)
Neuro findings	Opisthotonos; Hyper or hypotonicity; Seizures; Gross motor developmental delay; Loss of developmental milestones	Progressive myoclonic epilepsy; Learning disabilities; Hydrocephalus (GD3c)
Cardio-pulmonary	Aspiration pneumonias	Abnormal chest CT; Opacities on chest Xray; Calcification of cardiac valves (GD3c)
Bone	Kyphosis and/or scoliosis in infancy/young childhood	Kyphoscoliosis in childhood/adolescence; Bone cysts; Avascular necrosis; Pathological fractures

Although neuronopathic GD is a spectrum, some manifestations maybe more characteristic of either GD2 or GD3.