glycogen storage disease

Glycogen can accumulate in muscles, heart, and lungs, because lysozymes lack enzymes {glucosidase} {acid maltase} to break down glycogen {glycogen storage disease}.

glycogen

After translation, glycogen-cleaving-enzyme precursors attach mannose at species-specific glycosylation sites. Precursors lose signal peptides after leaving endoplasmic reticulum. Mannose phosphorylation allows protein uptake into lysosomes, where enzymes split precursors into other enzymes and glycogen-cleaving enzymes.

mutation

Gene-intron mutations can cause incorrect mRNA splicing, so lysosomes have no glycogen-cleaving enzymes. Heterozygotes are only carriers, but people with two mutated genes have varying illness degrees.

types

Fabry disease, Gaucher disease, Tay-Sachs disease, and mucopolysaccharide storage diseases are glycogen storage diseases. Glycogen storage diseases {glycogen storage disease type II} include Pompe's disease and muscular dystrophy.

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Date Modified: 2022.0224