ISSN 2398-2950      

Storage disease

ffelis

Introduction

  • Group of genetic diseases rarely seen in general practice, associated with failure of a metabolic pathway; includes mucopolysaccharidosis (MPS), mucolipidosis (ML), gangliosidosis (GM), sphingomyelinosis, alpha-mannosidosis, ceroid lipofuscinosis, globoid leukodystrophy.
  • Cause: specific enzyme deficiency due to genetic defect, may occur as breed-specific inherited disease.
  • Signs: chronic, progressive neurological signs - ataxia, behavioral change, dysphonia; young adults, but ceroid lipofuscinosis can occur in older individuals.
  • Diagnosis: urinalysis, radiography, enzymology, biopsy, genetic testing.
  • Treatment: none.
  • Prognosis: poor.
Print off the owner factsheet on Storage diseases in your cat to give to your client.

Pathogenesis

Etiology

  • Genetic.

Pathophysiology

  • Defect in genes coding for lysosomal acid hydrolases (involved in lysosomal catabolic pathway)  →   accumulation of enzyme substrate  →   distension of lysosome  →   cell distension  →   impaired function, eg meganeurites may have aberrant synaptic formation/distribution.

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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Further Reading

Publications

Refereed papers

  • Recent references from PubMed and VetMedResource.
  • Skelly B J & Franklin R J M (2002) Recognition and diagnosis of lysosomal storage diseases in the cat and dog. J Vet Intern Med 16 (2), 133-141 PubMed.
  • He X, Li C M, Simonaro C M et al (1999) Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab 67 (2), 106-112 PubMed.
  • Hubler M, Haskins M E, Arnold S et al (1996) Mucolipidosis type II​ in a domestic shorthair cat. JSAP 37 (9), 435-441 PubMed.
  • Cuddon P A, Higgins R J, Duncan I D et al (1989) Polyneuropathy in feline Niemann Pick disease. Brain 112 (Pt 6), 1429-1443 PubMed.
  • Cummings J F, Wood P A, de Lahunta A et al (1988) The clinical and pathologic heterogeneity of feline alpha-mannosidosis. J Vet Intern Med (4), 163-170 PubMed.
  • Jezyk P F, Haskins M E, Newmann L R (1986) Alpha mannosidosis in a Persian cat. JAVMA 189 (11), 1483-1485 PubMed.
  • Neuwelt E A, Johnson W G, Blank N K et al (1985) Characterization of a new model of GM2 gangliosidosis (Sandhoff's disease) in Korat cats. J Clin Invest 76 (2), 482-490 PubMed.
  • Barnes I C, Kelly D F, Pennock C A et al (1981) Hepatic beta galactosidase and feline GM1 gangliosidosis. Neuropath Applied Neurobiol (6), 463-76 ResearchGate.

Other sources of information

  • Summers, Cummings & de Lahunta. In: Veterinary Neuropathology. Mosby (Excellent review of storage diseases).

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