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- Title
DIAGNOSTYKA I POSTĘPOWANIE TERAPEUTYCZNE U DZIECI Z MUKOPOLISACHARYDOZĄ TYPU VI.
- Authors
Jurecka, Agnieszka; Opoka-Winiarska, Violetta; Tylki-Szymańska, Anna
- Abstract
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI, OMIM 253200) is a rare autosomal recessive lysosomal storage disorder. The disease is caused by a deficiency of arylsulfatase B (ARSB, EC 3.1.6.12), an enzyme involved in the metabolism of glycosaminoglycans (GAGs). First symptoms appear during infancy, childhood, adolescence or even later, depending on the progress of disease. They are characterized by wide variability. The symptoms are systemic, chronic, progressive in nature and affect mainly the osteoarticular, cardiovascular and respiratory systems as well as vision, hearing and skin. Somatic symptoms may be similar to other forms of MPS, but patients with MPS VI demonstrate normal intelligence. The diagnosis of MPS VI requires clinical experience and specialized laboratory tests. Initial diagnosis is based on the determination of the concentration of glycosaminoglycans in the urine and the diagnosis is based on finding arylsulfatase B deficiency and/or molecular tests. Early diagnosis is not always easy, especially in patients with slowly progressing disease, who are often recognized late or misdiagnosed. Early diagnosis is particularly important for the effects enzyme replacement therapy with human recombinant form of arylsulfatase B (galsulfase). The purpose of this review is to present diagnostic difficulties associated with heterogeneity of clinical picture of the disease, biochemical and genetic methods used to confirm the diagnosis and therapeutic possibilities in MPS VI patients.
- Subjects
MUCOPOLYSACCHARIDOSIS IV; PEDIATRIC therapy; MAROTEAUX-Lamy syndrome; DERMATAN sulfate; ARYLSULFATASES
- Publication
Przeglad Pediatryczny, 2012, Vol 42, Issue 3, p149
- ISSN
0137-723X
- Publication type
Article