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galactosialidosis

MIMé256540 20q13.1

Tuesday 29 July 2008

Definition: Autosomal recessive metabolic disease.

Synopis

- non-immune hydrops fetalis

  • edematous genitalia
  • fetal ascites

- developmental reatrdation
- hepatomegaly
- splenomegaly
- dwarfism
- coarse facies
- abondant eyebrows
- almoste complete absence of subcutaneous tissue
- hirsutism
- conjunctival telangiectases
- angiokeratomas (scrotum)
- corneal clouding
- macular cherry red spot
- hearing loss
- mental retardation
- seizures
- dysostosis multiplex
- usually no organomegaly
- occasionally hepatosplenomegaly
- vacuolated Kupffer cells
- widespread hemangiomas
- mitral valvular disease
- aortic valvular disease

Pathology

- EM of skin biopsy and peripheral blood lymphocytes shows membrane-bound fibrillogranular inclusions

Laboratory

- Elevated urine sialyloligosaccharides but no free sialic acid
Neuraminidase deficiency
- Beta-galactosidase deficiency
- Decreased carboxypeptidase-L/protective protein activity

Types

- early-infantile form of galactosialidosis
- late-infantile form of galactosialidosis
- adult type of galactosialidosis