Family STU 63 Genotype of GNPTG gene LYSOSOMAL ENZYMES LYSOSOMAL ENZYMES LYSOSOMAL ENZYMES
Arylsulfatase A (Normal Range 30–268 nmol/hr/ mg protein) Hexosaminidase – A (Normal Range 90-385nmol/hr/mg protein) Β- galactosidase (Normal Range 470–2500nmol/hr/mg protein)
STU 63-1 (proband) c.802A>C/+ 32.6 106.9 581.6
STU 63-2 (father) unaffected
+/+
31.9
108.1
489.7
STU 63-3 (mother) unaffected +/+ 38.2 113.1 631.9
STU 63-4 (sister) unaffected
+/+
33.6
116.1
506.3