Sunday, March 9, 2008

Clinic Clues for Lysosomal storage diseases

Adult : liver, fracture-> Gaucher (Gluco)

Young children / Infant
CNS only -> Tay-Sachs (Hexo->Ganglio)
CNS & Liver -> Niemann-Picks (Sphingo)

Eye clouding, ugly -> Hurler (alpha-L-iduro ->sulfate)
No eye clouding -> Hunter (iduro->sulfate)

PNS: burning hands, heart, and kidney -> Fabry's (alpha-galacto accumulate C.T.)
Stiff hand & eye -> Krabe (beta-galacto accumulate Galacto)

PNS & CNS: 1 year old can't walk -> Metachromatic leukodystrophy (Arylsu -> C.S.)

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