Table 1.

Enzyme deficiency disorders with angiokeratoma corporis diffusum

Disease	Enzyme affected	Cutaneous	CNS	PNS	Cardiac	Renal	Eye	Ear	Others
Fabry	Alpha-galactosidase A	ACD	-	Acroparesthesias Hypohydrosis	Arrythmias, conduction defects	Proteinuria, End-stage renal disease	Corneaverticillata, Tortuous retinal vessels	Hearing loss	Lymphedema
Fucosidosis	Alpha-L-fucosidase	ACD Coarse facies	Develop-mental delay	Hypohydrosis	-	-	-	-	Recurrent respiratory infections
Kanzaki	Alpha-N- acetylgalctosaminidase	ACD coarse facies	Neuro degeneration	-	-	-	-	Hearing loss	-
Galacto- sialidosis	Beta-galactosidase and neuraminidase	ACD Dwarfism Coarse facies	Neurodegeneration	-	-	-	Corneal clouding	Hearing loss	Seizures
Aspartyl- glycosaminuria	Aspertylglucosaminidase	ACD, coarse facies	Mental retardation	-	Valve involvement	-	-	-	Organomegaly
GM1 gangliosidosis	Beta-galactosidase	ACD Facial dysmorphism	Neurodegeneration, dystonia	-	-	-	-	-	Organomegaly
Beta- Mannosidosis	Beta-mannosidase	ACD	Learning difficulty	-	-	-	-	Hearing loss	Recurrent infections

ACD=Angiokeratoma Corporis Diffusum; CNS=Central Nervous System ; PNS=Peripheral Nervous System