Disease Information for Mucolipidosis IV (Bermans Syndrome)

Mucolipidosis IV; Berman Syndrome; Ganglioside Neuraminidase Deficiency; Ganglioside Sialidase Deficiency; ML Disorder IV; ML IV; Neuraminidase Deficiency; Sialolipidosis; Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene; This deficiency may lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body; Mucolipidosis IV is characterized by mental retardation; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea); and/or degeneration of the nerve-rich membrane lining the eyes (retinal degeneration); Mucolipidosis IV is thought to be inherited as an autosomal recessive genetic trait----------- [NORD 2005]--------------------------------------OVERVIEW

(ML4)is the most recently recognized Jewish genetic disease; The specific biochemical and genetic defects which cause ML4 are known to be associated with chromosome 19; This permits precise methods for diagnosis including identification of carriers of the gene which causes ML4 and prenatal diagnosis; Further research is required to isolate the disease gene; The disease is inherited as an autosomal recessive trait; Although both parents are normal, they carry the disease-causing gene; Such carrier couples have a 25% risk for an affected fetus with each pregnancy; The prenatal diagnosis of this disease has been successfully accomplished by electron microscopic demonstration of characterisic storage bodies in cultured amniotic cells obtained by amniocentesis; The prenatal diagnosis is difficult and must be performed in centers with expertise in the specialized techniques required for this diagnosis; Carrier testing is available by blood test; At present, no specific therapy is available; Optimal supportive care, including physical, occupational and speech therapy, can significantly improve the function and quality of life

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