Lysosomal storage and transport disorders

Lysosomal storage and transport disorders is a mechanism class of 7 diseases in this volume that share a disabled lysosomal enzyme or transporter, so an undegraded substrate accumulates and poisons the cell. This chapter links each member to its own canonical page rather than restating it; the graded burden values live on those pages and in the framework.

The shared mechanism

The disabled protein is either a degradative enzyme — acid sphingomyelinase (Niemann-Pick A), α-L-iduronidase (Hurler), acid α-glucosidase (Pompe), acid β-glucosidase (Gaucher), α-galactosidase A (Fabry) — or a lysosomal membrane transporter, cystinosin (cystinosis). In every case the lysosome is the point of failure, which is why the class shares treatment logic (enzyme replacement, substrate reduction) and a common progressive multi-organ storage phenotype.

Member diseases (each on its own page)

• #2Niemann-Pick disease, type Alysosomal · SMPD1 · residual burden rank 2/23
• #13Hurler syndromelysosomal · IDUA · residual burden rank 13/23
• #10Glycogen storage disease, type IImetabolic/muscular · GAA · residual burden rank 10/23
• #18Gaucher disease type Ilysosomal · GBA1 · residual burden rank 18/23
• #21Gaucher diseaselysosomal · aggregate concept · residual burden rank 21/23
• #7Fabry diseaselysosomal · GLA · residual burden rank 7/23
• —Cystinosisrenal/lysosomal · CTNS · not placed (insufficient axis coverage)

This chapter is a cross-reference: the burden order and all graded values live on the individual disease pages and in the framework (§1). Membership is read from the curated dossiers’ gene and mechanism fields, so the class list is reproducible, not hand-picked.