Table 1.

Clinical and molecular features of two Taiwanese patients with GM1 gangliosidosis

	Patient 1	Patient 2
Phenotype	Juvenile	Infantile
Age of onset	6 months	Birth
Age at diagnosis	18 months	4 months
Presentation	Developmental regression, delayed psychomotor development, coarse facial features, macroglossia, abdominal distention, and thick skin with Mongolian spots	Developmental regression, hypotonia, bilateral hydrocele, and visceromegaly
Eye	Normal	Cherry red spot
Heart	Normal	Dilated cardiomyopathy, Hypertrophied left atrium/ventricle, and poor contractility of left ventricle
Skeleton	Scoliosis and beaking of the lumbar vertebral bodies	Normal
Liver/spleen	Hepatosplenomegaly	Hepatomegaly
Nervous system	White matter demyelination and cortical atropy	White matter demyelination, cortical atropy, and seizure
Bone marrow	Foamy histiocytes and progressive leukomalacia	Foamy histiocytes
Age of death	2 years, 2 months	2 years
β-galactosidase activity	2% of control value in fibroblast	< 1% of control value in fibroblast
Genetic defect
Allele 1	c.304C > G (p.H102 D, inherited from father)	c.495_497delTCT (p.L166del, inherited from mother)
Allele 2	c.902C > T (p.A301V, inherited from mother)	c.1481G > T (p.G494V, inherited from father)
Polymorphisms	p.L10P	p.L10P