Mucolipidosis type IV
From Wikipedia, the free encyclopedia
| ICD-10 | E75.1 | |
|---|---|---|
| OMIM | 252650 | |
| DiseasesDB | 32693 | |
| MeSH | C05.116.198.371 | |
Mucolipidosis type IV (ML IV) is caused by harmful alterations of a protein in the cell that is believed to be involved in the movement of molecules such as calcium across cell membranes. Many cells throughout the body are filled with granules. Most patients with ML IV have delay of movement development and coordination, clouding of the cornea of the eye, and severely reduced vision. Patients usually have an unsteady gait and do not walk independently. ML IV patients have occasionally been misdiagnosed as having cerebral palsy. Speech is usually severely impaired. ML IV patients have a dramatic reduction of secretion of acid by the stomach. This alteration results in an increase of a protein called gastrin in the blood.
[edit] Sources
- NINDS mucolipidoses - article derived from detail sheet available here
