Orthopedic Pathology in Children with Mucopolysaccharidosis Type I
نویسندگان
چکیده
منابع مشابه
Hurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملOpen issues in Mucopolysaccharidosis type I-Hurler
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
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BACKGROUND Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II. METHODS The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed. The growth patterns of these patients were analyzed and then plotted onto Polish...
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Neonatal bone marrow transplantation (BMT) could offer a novel therapeutic opportunity for genetic disorders by providing sustainable levels of the missing protein at birth, thus preventing tissue damage. We tested this concept in mucopolysaccharidosis type I (MPS IH; Hurler syndrome), a lysosomal storage disorder caused by deficiency of α-l-iduronidase. MPS IH is characterized by a broad spect...
متن کاملSpinal cord compression in young children with type VI mucopolysaccharidosis.
Spinal cord compression (SCC) is a known complication of mucopolysaccharidosis type VI (MPS VI) secondary to atlantoaxial subluxation, craniovertebral stenosis, posterior longitudinal ligament hypertrophy, or dural thickening. SCC is expected to occur in the natural history of the disease, regardless of enzyme replacement therapy (ERT), as intravenous enzyme does not cross the blood-brain barri...
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ژورنال
عنوان ژورنال: Current pediatrics
سال: 2016
ISSN: 1682-5535,1682-5527
DOI: 10.15690/vsp.v15i6.1652