Disease - Mucolipidosis 4
Definition
An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.
Acronym
ML4
Synonyms
MLIV
Mucolipidosis IV
Mucolipidosis type IV
Sialolipidosis
Mucolipidosis IV
Mucolipidosis type IV
Sialolipidosis
Keywords
Disclaimer
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