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mucolipidosis type IV

Wednesday 12 November 2003

Mucolipidosis type IV (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe neurologic abnormalities.

Synopsis

- brain : pigmented cytoplasmic granules in neurons and accumulation of lamellated membrane structures in lysosomes
- stomach: cytoplasmic vacuolization of parietal cells

Ultrastructure

- lysosomal inclusions in gastric parietal cells

Animals models

- Mouse: 17924347

Reviews

- Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol Med. 2002 Aug;2(5):445-50. PMID: 12125810

References

- Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA. Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV. Am J Hum Genet. 2007 Nov;81(5):1070-83. PMID: 17924347