Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Dictionary » Iduronate sulphatase deficiency
 

Iduronate sulphatase deficiency

Introduction: Iduronate sulphatase deficiency

Description of Iduronate sulphatase deficiency

Iduronate sulphatase deficiency: An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure.
Source: Diseases Database

Iduronate sulphatase deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Iduronate sulphatase deficiency:

Terms associated with Iduronate sulphatase deficiency:

Terms Similar to Iduronate sulphatase deficiency:

Source: Diseases Database

External links related to: Iduronate sulphatase deficiency

Source: Diseases Database

Interesting Medical Articles:

Medical dictionaries:

More Medical Dictionary Topics

  • MDNCF
  • MDR
  • MDR3 deficiency
  • MDRS1
  • MDS
  • MDS (Miller-Dieker syndrome)
  • MDS (Myelodysplastic syndromes)
  • ME
  • ME virus
  • MEA
  • Meacham Winn Culler syndrome
  • Meacham winn culler syndrome de
  • Meadow dermatitis
  • Meadow syndrome
  • Meadows

    Find out more

    Search to find out more about Iduronate sulphatase deficiency:

      
      
    powered by
    Google
  •  

    By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

    Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise