Mucopolysaccharidosis II. type
From WikiLectures
- L-iduronosulfate sulfate defatase deficiency [1]
Diseases characterized by the following features:
- accumulation of heparan sulfate
- men only (GR inheritance)
- without corneal opacity + thoracolumbar kyphosis [2]
- OMIM: +300900
heavy form (A)[edit | edit source]
- starts between the ages of 1 and 3, has faster progression and people with disabilities die by the age of 15, often due to heart failure
- macrocephalus, prominent forehead, wide nose, hypertrophic gums, malformed teeth, macroglossia
- short neck, prominent abdomen as a consequence of hepatosplenomegaly
- hearing impairment
- dementia
- cardiomegaly, coronary artery stenosis
light form (B)[edit | edit source]
- manifestations often begin at a younger school age and the disability can live to be 50 years old
- slow growth, flexion holding fingers of hands that bother while typing retinitis pigmentosa
- retinitis pigmentosa
- normal intellect
- frequent hearing loss
Links[edit | edit source]
Bibliography[edit | edit source]
- HYÁNEK, Josef, et al. Dědičné metabolické poruchy. 1.. edition. Praha : Avicenum, 1990. vol. 342. ISBN 80-201-0064-4.
Related articles[edit | edit source]
- Mucopolysaccharidosis
- Hereditary disorders of sugar metabolism
- Achondroplasia ▪ Tanatophoric dwarfism ▪ Diastrophic dysplasia ▪ Larsen syndrome
