Internal Medicine

0521779407-13 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:15

Lysosomal Diseases 939

■Fabry disease [alpha-galactosidase A]

■Farber disease [ceramidase]

■Gaucher disease [glucocerebrosidase]

■GM1 gangliosidosis [beta-galactosidase]

■Tay-Sachs/Sandhoff disease/GM2 gangliosidosis [hexosaminidase]

■Krabbe [galactosylceramidase]

■Metachromatic leukodystophy [arylsulfatase]

■Neuronal ceroid lipofucinosis/Batten disease [multiple defects, not

all are known. Eight genetic loci designated CLN1-8]

■Niemann-Pick types A, B, C [sphingomyelinase in A and B, choles-

terol transport in C]

■Salla disease [sialic acid transporter]

■Sialidosis [alpha-neuraminidase]

management

What to Do First

■Supportive in most cases

General Measures

■Antiseizure medication (broad-spectrum drugs – e.g., levetirac-

etam, topiramate, lamotrigine, zonisamide, valproate; if myoclonic

seizures consider clonazepam, chlorazepate, diazepam, lorazepam)

■Antispasticity drugs (e.g., diazepam, lioresal, dantrolene)

■Adaptive equipment

■Genetic counseling for family members

specific therapy

■Bone marrow transplant in some cases, especially presymptomatic

■Future?: Stem cells, gene therapy

follow-up

n/a

complications and prognosis

■Rapidly progressive and fatal: Niemann-Pick-A, Tay-Sachs/Sandhoff

disease/GM2, Farber disease, infant Neuronal ceroid lipofuci-

nosis/Batten disease, infant and juvenile Gaucher disease, infantile

Krabbe

■Slowly progressive over years: Niemann-Pick B, Niemann-Pick C,

Fabry disease; late-onset Gaucher disease, Krabbe, metachromatic

leukodystophy, neuronal ceroid lipofucinosis/Batten disease