Storage disease

i canis

Contributor(s):

Kyle Braund

Paul Cuddon

Laurent Garosi

Synonym(s): Metabolic storage disease; degenerative storage disease, ceroid lipofuscinosis (ceroidosis, fucosidosis, gangliosidosis (GM1, GM2, globoid cell leucodystrophy (Krabbe's disease, sphingomyelinosis (Niemann-Pick disease, sphingomyelin lipidosis, glycogen storage disease (glycogenosis type Ia, II, III, VII, Gaucher's disease (glucocerebrosidosis, mucopolysaccharidosis (MPS I, II, IIIa, VI, VII.

Introduction

Group of genetic diseases associated with failure of metabolic pathway → accumulation of substances within lysosomal system → impaired cellular function.
Signs: multifocal neurological signs.
Cause: specific enzyme deficiency due to genetic defect, may occur as breed-specific inherited disease. Usually autosomal recessive mode of inheritance.
Signs: chronic, progressive neurological signs - ataxia, behavioral change, blindness, seizures and tetraplegia.
Diagnosis: lysosomal enzyme analysis or molecular genetic testing.
Treatment: none.
Prognosis: poor.

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Pathogenesis

Etiology

Sphingomyelinosis - deficiency of sphingomyelinase.
GM1 gangliosidosis - deficiency of beta-galactosidase.
GM2 gangliosidosis - deficiency of hexosaminidase.
Glucocerebrosidase - deficiency of beta-glucosidase.
Ceroid lipofuscinosis - deficiency of phenylene-diamine-mediated peroxidases.
Globoid cell leukodystrophy - deficiency of beta-galactocerebrosidase.
Mucopolysaccharidosis - deficiency of alpha1-iduronidase.
Fucosidosis - deficiency of alpha-fucosidase.
Glycogenosis - deficiency of alpha-glucosidase.

Specific

Most of these breed-specific diseases are thought to be hereditary (usually as an autosomal recessive inheritance).

Pathophysiology

Defect in genes coding for specific lysosomal acid hydrolases (involved in lysosomal catabolic pathway) → accumulation and storage of substrate(s) of various cells throughout the nervous system (neurons, glial cells, macrophages or Schwann cells) as well as in cells in other organs → distension of lysosome → neuronal cell distension → impaired function, eg meganeurites may have aberrant synaptic formation/distribution → neurologic dysfunction.

Timecourse

Slowly progressive over months.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Storage disease

Introduction