Mucolipidoses

Mukolipidoser

Svensk definition

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.

Engelsk definition

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)

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

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