Mucolipidoses
Synonyms
Cherry Red Spot Myoclonus Syndrome
Cherry Red Spot-Myoclonus Syndrome
Deficiencies, Glycoprotein Neuraminidase
Deficiency Disease, Ganglioside Sialidase
Deficiency, Glycoprotein Neuraminidase
Ganglioside Sialidase Deficiency Disease
Glycoprotein Neuraminidase Deficiencies
Glycoprotein Neuraminidase Deficiency
I Cell Disease
I-Cell Disease
I-Cell Diseases
Inclusion Cell Disease
Inclusion Cell Diseases
Lipomucopolysaccharidoses
Lipomucopolysaccharidosis
Mucolipidoses, Type I
Mucolipidoses, Type II
Mucolipidoses, Type III
Mucolipidoses, Type IV
Mucolipidosis
Mucolipidosis I
Mucolipidosis II
Mucolipidosis III
Mucolipidosis III Alpha Beta
Mucolipidosis IIIa
Mucolipidosis IV
Mucolipidosis Type 1
Mucolipidosis Type I
Mucolipidosis Type II
Mucolipidosis Type III
Mucolipidosis Type IV
Mucolipidosis, Type I
Mucolipidosis, Type II
Mucolipidosis, Type III
Mucolipidosis, Type IV
Myoclonus Cherry Red Spot Syndrome
Myoclonus-Cherry Red Spot Syndrome
Polydystrophy, Pseudo-Hurler
Pseudo Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
Psuedo Hurler Disease
Psuedo-Hurler Disease
Psuedo-Hurler Diseases
Sialidoses
Sialidosis
Sialolipidoses
Sialolipidosis
Type I Mucolipidoses
Type I Mucolipidosis
Type II Mucolipidoses
Type II Mucolipidosis
Type III Mucolipidoses
Type III Mucolipidosis
Type IV Mucolipidoses
Type IV Mucolipidosis
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)
See Also