Fig. 1 | Genetics in Medicine

Fig. 1

From: Lysosomal storage disorders: Diagnostic dilemmas and prospects for therapy

Fig. 1

Pedigree of W family showing the presence of a MLD-causing mutation on the pseudodeficiency allele (PdMLD) and the difficulty of disease assignment using only measurement of arylsulfatase A activity. The arrow indicates the proband who has juvenile MLD confirmed by urine sulfatide excretion and 14C-sulfatide loading studies. Arylsulfatase A values in leukocytes in all family members and the four different alleles present in this family are illustrated.

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