Storage disease

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Sections available in full article Introduction, Presenting signs, Age predisposition, Breed predisposition, Special risks (e.g. anesthetic), Pathogenesis, Etiology, Pathophysiology, Timecourse (incubation, duration), Diagnosis, Presenting problems, Client history, Clinical signs, Diagnostic investigation, Confirmation of diagnosis, Gross autopsy findings, Histopathology findings, Differential diagnosis, Treatment, Standard treatment, Prevention, Control, Prophylaxis, Sequelae, Prognosis, Sources, Publications, Vetstream contributor(s),
Contributors Professor Robin Franklin BVetMed, BSc, PhD, MRCVS, FRCPath
Dr Rosanna Marsella DVM DipACVD
Dr Laurent Garosi DVM DipECVN MRCVS RCVS & European Specialist in Veterinary Neurology

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.

Diagnosis

Clinical signs

  • Cerebellar-like signs (GM, sphingomyelinosis, mannosidosis).
  • Dwarfism (MPS).
  • Facial deformity, eg flat face, small ears, skin thickening (MPS).
  • Neuropathic syndrome (sphingomyelinosis/Niemann-Pick disease Type A).
  • Corneal opacity (GM, MPS).
  • Hypermetria (sphingomyelinosis).
  • Retinal atrophy (GM).
  • Hepatosplenomegaly (GM).
  • Heart murmur  Cardiac sounds: overview  (GM, mannosidosis).
  • Thoracolumbar spinal cord dysfunction (MPS VI).

Diagnosis

Differential diagnosis

  • Cerebellar disease  Brain: cerebellar disease  .
  • Hypomyelination.

Sequelae

Prognosis

  • Poor.
  • Some individuals may live 3-4 years with some of the diseases.

Sources

Publications

Refereed papers

  • Recent references fromPubMed.
  • Skelly B J & Franklin R J M (2002)Recognition and diagnosis of lysosomal storage diseases in the cat and dog.J Vet Intern Med16(2), 133-141.
  • He X, Li C M, Simonaro C Met al(1999)Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.Mol Genet Metab67, 106-112.
  • Cuddonet al(1989)Polyneuropathy in feline Niemann Pick disease.Brain112, 1429-1443.
  • Cummingset al(1988)The clinical and pathologic heterogeneity of feline alpha-mannosidosis.J Vet Intern Med2, 163-170.
  • Hubler M, Haskins M E, Arnold S, Kaser-Hotz Bet al(1996)Mucopolysaccharidosis II in a DSH.JSAP37, 435-441.
  • Jezyk P F, Haskins M E, Newmann L R (1986)Alpha mannosidosis in a Persian cat.JAVMA189, 1483-1485.
  • Neuwelt E A, Johnson W G, Blank N K, Pagel M A Maslen-McClure C, McClure M J, Wo P M (1985)Characterisation of a new model of GM2 gangliosidosis in Korat cats.J Clin Invest76, 482-490.
  • Barnes et al (1981)Hepatic beta galactosidase and feline GM1 gangliosidosis.Neuropath Applied Neurobiol7, 463-76.

Other sources of information

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

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