Disease Information for Beta-glucuronidase deficiency syndrome (MPS VII)

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Clinical Manifestations
Signs & Symptoms
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Lethargy/torpor
Mental Deficiency Child
Seizures
Splenomegaly
Short stature
Short stature Child
Cherry red spot/retinal sign
Clinical Presentation & Variations
Presentation/Degenerative cerebral disease Progressive Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
WBC/inclusion bodies (morulae) (Lab)
Abnormal Lab Findings - Increased
URINE Dermatan sulfate
URINE Keratan sulfate
URINE Mucopolysaccharides
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications
Convulsions (grand mal)
Dysostosis multiplex
Mental retardation
Skeletal dysplasia
Skeletal/bone malformations
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
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/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
Synonyms
Synonym
beta glucoronidase deficiency, beta glucuronidase deficiency, beta glucuronidase deficiency mucopolysaccharidosis, deficiency beta glucuronidase, Deficiency of beta glucuronidase, Deficiency of beta glucuronidase (disorder), Disease Sly, GUS deficiency, GUSB deficiency, MPS 7, MPS VII, MPS VII Mucopolysaccharidosis VII, MPS VII Mucopolysaccharid VII, mucopolysaccharide storage disease VII, mucopolysaccharidosis (MPS) VII, Mucopolysaccharidosis 7, Mucopolysaccharidosis MPS VII, Mucopolysaccharidosis MPS VII (disorder), Mucopolysaccharidosis type VII, Mucopolysaccharidosis VII, Mucopolysaccharidosis VIIs, SLY DIS, Sly disease, Sly Syndrome, Sly's syndrome, Syndrome Sly, type VII mucopolysaccharidosis, VIIs Mucopolysaccharidosis, Synonym/MPS Disorder, type VII, Synonym/MPS VII syndrome, Synonym/Sly syndrome, Synonym/Type VII Mucopolysaccharidosis
Definition

Sly Syndrome;Beta-Glucuronidase Deficiency; GUSB deficiency

MPS Disorder, type VII; MPS VII; mucopolysaccharidosis type VII; Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes; The lysosomes are particles bound in membranes within cells that break down certain fats and 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;

Sly syndrome (MPS-VII) is an MPS storage disease caused by a deficiency of the enzyme beta-glucuronidase that leads to an accumulation of dermatan sulfate (DS), heparan sulfate (HS) and chondroitin sulfate (CS) in many tissues and organs of the body including the central nervous system;

The clinical features of Sly syndrome vary from patient to patient, but all have short stature due to growth retardation, changes in bones visible on X-rays and some degree of mental retardation. Survival into adulthood is common with milder cases and osteoarthritis is a common complication; The symptoms of Sly Syndrome are similar to those of Hurler Syndrome (MPS I) and the other Mucopolysaccharidoses; Symptoms may include mental retardation, short stature with an unusually short trunk, and/or abnormalities of the intestines, corneas of the eyes, and/or the skeletal system; Sly Syndrome is inherited as an autosomal recessive genetic trait----------------------------[NORD Website 2005]----------------

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External Links Related to Beta-glucuronidase deficiency syndrome (MPS VII)
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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