Disease Information for Maroteaux-Lamy Mucopolysaccharidosis VI Syndrome

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Clinical Manifestations
Signs & Symptoms
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Blue Sclera
Disease Progression
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Dermatan sulfate
URINE Mucopolysaccharides
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications
Congestive heart failure
Dysostosis multiplex
Kyphoscoliosis
Maroteaux-Lamy syndrome
Skeletal dysplasia
Skeletal/bone malformations
Heart Failure in a Child
Disease Mechanism & Classification
Class
CLASS/Skeletal (category)
CLASS/Connective tissue/Mesenchyme matrix disorder
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Storage disorder (ex)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym
ARSB Arylsulfatase B defic, ARSB Arylsulfatase B deficiency, ARSB Arylsulphatase B defic, ARSB Arylsulphatase B deficiency, ARSB deficiency, arylsulfatase B (ARSB) deficiency, Arylsulfatase B deficiency, Arylsulphatase B deficiency, Deficiency of N acetylgalactosamine 4 sulfatase, Deficiency of N acetylgalactosamine 4 sulfatase (disorder), Deficiency of N acetylgalactosamine 4 sulphatase, DWARFISM POLYDYSTROPHIC, Maroteaux Lamy syndrome, Maroteaux Lamy, Maroteaux Lamy disease, Maroteaux Lamy Syndrome, Maroteaux Lamy syndrome (disorder), Maroteaux Lamy syndrome I, MPS 6, MPS VI, MPS VI Mucopolysaccharidosis VI, MPS VI Mucopolysaccharidos VI, mucopolysaccharide storage disease VI, mucopolysaccharidosis (MPS) VI, Mucopolysaccharidosis 6, Mucopolysaccharidosis chondroitin sulfate B, Mucopolysaccharidosis chondroitin sulphate B, Mucopolysaccharidosis MPS VI, mucopolysaccharidosis type VI, Mucopolysaccharidosis type VI (MPS VI), Mucopolysaccharidosis VI, Mucopolysaccharidosis VIs, N Acetylgalactosam 4 sulph def, N Acetylgalactosamine 4 sulfatase deficiency, N acetylgalactosamine 4 sulphatase deficiency, Polydystrophic Dwarfism, Syndrome Maroteaux Lamy, type VI mucopolysaccharidosis, VIs Mucopolysaccharidosis, Synonym/Arylsufatase-B deficiency, Synonym/MPS VI syndrome, Synonym/Polydystrophic dwarfism, Synonym/Pycnodysostosis, Synonym/Pyknodysostosis, Synonym/Type VI mucopolysaccharidosis
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition

Maroteaux Lamy Syndrome; Arylsulfatase-B Deficiency; MPS Disorder VI; MPS VI; Mucopolysaccharidosis VI; Polydystrophic Dwarfism; Mucopolysaccharidoses are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules; The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities; Maroteaux-Lamy Syndrome (MPS Type VI) occurs in three types: a classic severe type, an intermediate type, and a mild type; The syndrome is characterized by a deficiency in the enzyme arylsulfatase B (also called N- acetylgalactosamine-4-sulfatase), which leads to an excess of dermatan sulfate in the urine; In general, growth retardation occurs from two to three years of age, with coarsening of facial features and abnormalities in the bones of hands and spine; Joint stiffness also occurs; The intellect is usually normal; ----------[NORD 2005]---------------

Maroeteaux-Lamy syndrome I; Arylsulfatase B deficiency syndrome; MPS VI syndrome; mucopolysaccharidosis type VI; polydystrophic dwarfism; An uncommon disorder of mucopolysaccharide metabolism due to a deficiency of the enzyme aryl sulphatase B; Clinical features are dwarfism, hearing loss, and progressive skeletal deformity (lumbar kyphosis, genu valgum), hydrocephalus (some cases), valvular disease of the heart and often enlargement of the liver and spleen; clouding of cornea; Hips severely involved; In the severe form onset is at 2 to 4 years, with death by the age of 20 years; Occurs in a severe and a mild form; The mild form, with onset at the age of 5 to 7 years, has a longer life expectancy; The intelligence is normal in both types; Both sexes affected--------- [whonamedit_com 2005]----------

Definition of Maroteaux-Lamy syndrome: A form of mucopolysaccharidosis with the clinical onset before age 3 that is characterized by an inability to metabolize dermatan sulfate; This leads to abnormal accumulation of dermatan sulfate, resulting in mild to severe changes in muscle, bone, skin, and other tissues, particularly the heart; Diagnosis is by examining leukocytes and cultured skin fibroblasts, or 24-hour urine collection to search for high levels of dermatan sulfate; There is no current treatment for the syndrome, but individual symptoms and problems may respond to physical therapy, medication, or surgery; Due to heart damage, death usually occurs before age 40; Also known as mucopolysaccharidosis type VI

---------[medicine_net 2005]----

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