Three novel homozygous mutations in the GNPTG gene that cause
mucolipidosis type III gamma.
(2009) Chaperone-mediated autophagy is defective in
mucolipidosis type IV.
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Mucolipidosis Type IV is a rare autosomal recessive disease with a carrier rate of about one in 120 among Ashkenazi Jews.
It is also known as "dysmorphic" type,
mucolipidosis I or lipomucopolysaccharidosis.
Dad, StephenHarvey, explained how Abigail has life-limiting condition called
Mucolipidosis type two, a metabolic disorder which affects her ability to carry out the normal turnover of various materials within cells.
A 2005 study by a team of three anthropologists at the University of Utah argued for an attention-grabbing premise: that the genes that caused four typically Ashkenazi diseases (Tay-Sachs, Gaucher, Niemann-Pick and
mucolipidosis type IV) were so prevalent because they were also linked to increased intelligence, an evolutionary benefit for Jews who typically held occupations that demanded mental acuity.
The event was attended by more than 200 people, and raised more than $1,300 in support of the fight against
Mucolipidosis III.
Harry Ostrer classified Tay-Sachs, along with Gaucher, Niemann-Pick, and
mucolipidosis type IV, as an autosomal recessive lysosomal storage disorder (Ostrer 2001).
The genes have been linked to two serious metabolic diseases known as
mucolipidosis II and III, in which abnormal amounts of carbohydrates or fatty materials accumulate in cells, leading to skeletal deformities and severe learning disabilities.
Mucolipidosis. Grupo de enfermedades de etiologia desconocida que se heredan de modo autosomico recesivo.
306-MHz [sup.1]H nuclear magnetic resonance spectroscopy of sialyloligosaccharides for patients with sialidosis (
mucolipidosis I and II).