Mucopolysaccharidosis: A review

Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. The severity of mucopolysaccharidosis is variable with lethal forms in utero and at...

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Bibliographic Details
Published in:La revue de medecine interne 2020-03, Vol.41 (3), p.180
Main Authors: Michaud, M, Belmatoug, N, Catros, F, Ancellin, S, Touati, G, Levade, T, Gaches, F
Format: Article
Language:eng ; fre
Subjects:
Adult
Arthritis, Rheumatoid - diagnosis
Diagnosis, Differential
Enzyme Replacement Therapy
Female
Genetic Testing
Humans
Infant, Newborn
Mucopolysaccharidoses - diagnosis
Mucopolysaccharidoses - epidemiology
Mucopolysaccharidoses - therapy
Pregnancy
Prenatal Care
Prognosis
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Summary:Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. The severity of mucopolysaccharidosis is variable with lethal forms in utero and attenuated forms diagnosed in adults. The most common symptoms are short stature, facial dysmorphism, chronic articular pains that can mimic chronic inflammatory rheumatism, axial and peripheral bone involvement, hepatosplenomegaly and an early carpal tunnel. Depending on the type of mucopolysaccharidosis, corneal, cerebral or cardiac involvements are possible. Screening is based on the analysis of urinary glycosaminoglycans. The deficient enzyme assay and the gene analysis confirm the diagnosis. Mucopolysaccharidosis recognition is important for patient management and family screening. In addition, specific enzyme replacement therapy exists for certain types of mucopolysaccharidosis. Role of clinician is important to evoke and diagnose mucopolysaccharidosis.
ISSN:1768-3122
DOI:10.1016/j.revmed.2019.11.010