Pseudo-Hurler polydystrophy
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| ICD-10 | E77.0 | |
|---|---|---|
| ICD-9 | 272.7 | |
| OMIM | 252600 | |
| DiseasesDB | 29378 | |
| MeSH | C05.116.198.371 | |
Symptoms of ML III are often not noticed until the child is 3-5 years of age. One of the milder forms of the MLs, ML III (sometimes referred to as pseudo-Hurler polydystrophy) also results from a deficiency or defect of the enzyme N-acetylglucosamine-1-phosphotransferase that is characteristic of ML II. However, ML III produces less severe symptoms and progresses more slowly, probably because the deficient enzyme retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies.
Patients with ML III are generally of normal intelligence (trait) or have only mild mental retardation. These patients usually have skeletal abnormalities, coarse facial features, short height, and corneal clouding. Some individuals with ML III survive until their fourth or fifth decade of life.
[edit] Sources
- NINDS mucolipidoses - article derived from detail sheet available here
