Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic
J. inborn errors metab. screen
;
9: e20200008, 2021. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1154711
ABSTRACT
Abstract The mucopolysaccharidoses (MPS) are a relatively uncommon group of inherited metabolic disorders. MPSs should be suspected in a child with coarse facies, organomegaly, recurrent respiratory tract infections, developmental delay, and hernias. Early diagnosis and treatment can greatly improve the quality of life in these children. In this study we studied 46 MPS patients diagnosed on enzyme and/or DNA testing and we found that the MPS II was the most common type followed by MPS I and MPS IVA. While the mean age of onset of symptoms was 12 months, the mean age at diagnosis was 4.5 years, a significant delay. One of major presenting features was recurrent respiratory problems, more prevalent in MPS II cases. Many patients also had short stature and contractures. Increasing awareness among physicians is of paramount importance for the early diagnosis and optimal treatment and prevention by prenatal testing and counselling.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Screening study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2021
Type:
Article
Affiliation country:
India
Institution/Affiliation country:
Institute of Medical Education & Research/IN
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