Welcome to Entry Card of Lysosomal Disorders

Details of RareLSD ID D_1051

Primary information
Disease_ID	D_1051
Disease	Tay–Sachs (disease AB variant)
Category	Gangliosidosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)	0.0-23.4
M-6-P	yes
Gene	HEXA
Type of Enzyme	cat enz