Mucolipidoses
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Year introduced: 2000(1977)
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Tree Number(s): C05.116.198.371, C10.228.140.163.100.435.590, C16.320.565.189.435.590, C16.320.565.202.670, C16.320.565.595.554.590, C18.452.132.100.435.590, C18.452.648.189.435.590, C18.452.648.202.670, C18.452.648.595.554.590
MeSH Unique ID: D009081
Entry Terms:
- Sialidosis
- Sialidoses
- Mucolipidosis
- Type I Mucolipidosis
- Mucolipidoses, Type I
- Mucolipidosis, Type I
- Type I Mucolipidoses
- Glycoprotein Neuraminidase Deficiency
- Deficiencies, Glycoprotein Neuraminidase
- Deficiency, Glycoprotein Neuraminidase
- Glycoprotein Neuraminidase Deficiencies
- Cherry Red Spot-Myoclonus Syndrome
- Myoclonus-Cherry Red Spot Syndrome
- Mucolipidosis Type I
- Mucolipidosis I
- Cherry Red Spot Myoclonus Syndrome
- Myoclonus Cherry Red Spot Syndrome
- Mucolipidosis Type 1
- Type III Mucolipidosis
- Mucolipidoses, Type III
- Mucolipidosis, Type III
- Type III Mucolipidoses
- Mucolipidosis III
- Pseudo-Hurler Polydystrophy
- Polydystrophy, Pseudo-Hurler
- Pseudo Hurler Polydystrophy
- Mucolipidosis IIIa
- Mucolipidosis III Alpha Beta
- Mucolipidosis Type III
- Psuedo-Hurler Disease
- Psuedo Hurler Disease
- Psuedo-Hurler Diseases
- Type IV Mucolipidosis
- Mucolipidoses, Type IV
- Mucolipidosis, Type IV
- Type IV Mucolipidoses
- Deficiency Disease, Ganglioside Sialidase
- Ganglioside Sialidase Deficiency Disease
- Sialolipidosis
- Sialolipidoses
- Mucolipidosis Type IV
- Mucolipidosis IV
- Lipomucopolysaccharidosis
- Lipomucopolysaccharidoses
- Type II Mucolipidosis
- Mucolipidoses, Type II
- Mucolipidosis, Type II
- Type II Mucolipidoses
- I-Cell Disease
- I Cell Disease
- I-Cell Diseases
- Mucolipidosis Type II
- Inclusion Cell Disease
- Inclusion Cell Diseases
- Mucolipidosis II
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