Table 5.

Differential Diagnosis of Cutaneous Lesions: Angiokeratomas Associated with Autosomal Recessive Lysosomal Storage Disorders

GeneDisorder
AGA Aspartylglucosaminuria
FUCA1 Fucosidosis (OMIM 230000)
GLB1 Adult-type β-galactosidase deficiency (See GLB1-Related Disorders.)
MANBA β-mannosidase deficiency (OMIM 248510)
NAGA Adult-onset α-galactosidase B deficiency (Schindler disease) (OMIM 609241)
NEU1 Sialidosis (α-neuraminidase deficiency ± β-galactosidase deficiency) (OMIM 256550)

From: Fabry Disease

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