En grupp metabola sjukdomar som kännetecknas av ansamling av onormalt stora mängder sura mukopolysackarider, sfingolipider och/eller glykolipider i inälvs- och mesenkymceller. Onormala mängder sfingolipider eller glykolipider förekommer i nervvävnad. Utvecklingsstörning och skelettförändringar, främst dysostosis multiplex, är vanliga.
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)
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Mucolipidosis — Sialidosis — Sialidoses — Type II Mucolipidosis — Mucolipidoses, Type II — Mucolipidosis, Type II — Type II Mucolipidoses — I-Cell Disease — I Cell Disease — I-Cell Diseases — Inclusion Cell Disease — Inclusion Cell Diseases — Mucolipidosis Type II — Mucolipidosis II — Lipomucopolysaccharidosis — Lipomucopolysaccharidoses — Type I Mucolipidosis — Mucolipidoses, Type I — Mucolipidosis, Type I — Type I Mucolipidoses — Mucolipidosis I — Cherry Red Spot Myoclonus Syndrome — Myoclonus Cherry Red Spot Syndrome — Mucolipidosis Type I — Mucolipidosis Type 1 — Glycoprotein Neuraminidase Deficiency — Deficiencies, Glycoprotein Neuraminidase — Deficiency, Glycoprotein Neuraminidase — Glycoprotein Neuraminidase Deficiencies — Cherry Red Spot-Myoclonus Syndrome — Myoclonus-Cherry Red Spot Syndrome — Type IV Mucolipidosis — Mucolipidoses, Type IV — Mucolipidosis, Type IV — Type IV Mucolipidoses — Ganglioside Sialidase Deficiency Disease — Mucolipidosis Type IV — Deficiency Disease, Ganglioside Sialidase — Mucolipidosis IV — Sialolipidosis — Sialolipidoses — Type III Mucolipidosis — Mucolipidoses, Type III — Mucolipidosis, Type III — Type III Mucolipidoses — Pseudo-Hurler Polydystrophy — Polydystrophy, Pseudo-Hurler — Pseudo Hurler Polydystrophy — Mucolipidosis III — Mucolipidosis III Alpha Beta — Mucolipidosis Type III — Psuedo-Hurler Disease — Psuedo Hurler Disease — Psuedo-Hurler Diseases — Mucolipidosis IIIa