ISSN 2398-2969      

Storage disease

icanis

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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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. JVIM 16 (2) 133-144 PubMed.
  • Jolly R D, Ehrlich P C, Franklin R J M et al (2001) Histological diagnosis of mucopolysaccharidosis IIIA in a wire-haired dachshund. Vet Rec 148 (18), 564-567 PubMed.
  • Cozzi F et al (1998) MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. JSAP 39 (8), 401-405 PubMed.
  • Fischer A et al (1998) Sulfaminidase deficiency in a family of dachshunds - a canine model of mucopolysaccharidosis IIIa (Sanfilipo A). Pediatric Res 44 (1), 74-82 PubMed.
  • Holmes N G et al (1998) A PCR-based diagnostic test for fucosidosis in English Springer Spaniels. Vet J 155 (2), 113-114 PubMed.
  • Müller G et al (1998) Biochemical findings in a breeding colony of Alaskan Huskies suffering from GMI-gangliosidosis. J Inher Metab Dis 21 (4), 430-431 PubMed.
  • Brix A E et al (1995) Glycogen storage disease Type Ia in two littermate Maltese puppies. Vet Pathol 32 (5), 460-465 PubMed.
  • Jolly R D, Palmer D N & Studdert V P et al (1994) Canine ceroid lipofuscinoses - a review and classification. JSAP 35 (6), 299-306 VetMedResource.
  • Kuwamura M et al (1993) Type C Niemann-Pick disease in a boxer dog. Acta Neuropathol 85 (3), 345-348 PubMed.
  • Alroy J et al (1992) Canine GM-gangliosidosis - a clinical, morphologic, histochemical and biochemical comparison of two different models. Am J Pathol 140 (3), 675-689 PubMed.
  • Sisk D B et al (1990) Clinical and pathological features of ceroid lipofuscinosis in two Australian cattle dogs. JAVMA 197 (3), 361-364 PubMed.
  • Taylor R M, Martin I C A, Farrow B R H (1989) Reproduction abnormalities in canine fucosidosis. J Comp Pathol 100 (4), 369-380 VetMedResource.
  • Barker C G, Herrtage M E, Sharahan F & Winchester (1988) Fucosidosis in English Springer spaniels - results of a trial screening programme. JSAP 29 (10), 623-630 VetMedResource.
  • Vicini D S et al (1988) Peripheral nerve biopsy for diagnosis of globoid cell leucodystrophy in a dog. JAVMA 192 (8), 1087-1090 PubMed.

Other sources of information

  • Merck Veterinary Manual (1998 )8, pp 907-911.
  • Oliver J E (1997) Handbook of Veterinary Neurology 3. pp 279, 343-345.
  • Ettinger S J (1995) Textbook of Veterinary Internal Medicine 4. pp 528, 618, 659, 708, 719.
  • DeLahunta A (1983) Veterinary Neuroanatomy and Clinical Neurology 2. pp 272, 296.

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