Disease Information for Mucopolysaccharidoses

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Palpable Liver/Hepatomegaly
Mental Deficiency Child
Mental/motor retardation in children/signs
Psychomotor retardation
Bossing forehead,infants
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Short stature
Short stature Child
Cherry red spot/retinal sign
Big ears
Prominent Ears
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child-Infant Only
Diagnostic Test Results
Other Tests & Procedures
TEST/Sweat test abnormal
Xray/Delayed bone age/slow epiphysis closures
Xray/Delayed cranial ossification in a child/Head
Xray/Dysostosis multiplex findings
Xray/Frontal bossing, infant/Skull
Xray/Parietal bossing/Skull
Associated Diseases & Rule outs
Associated Disease & Complications
Dysostosis multiplex
Mental retardation
Obstructive sleep apnea/Children
Skeletal dysplasia
Skeletal/bone malformations
Thoracolumbar gibbus deformity
Valvular heart disease
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Connective tissue/Mesenchyme matrix disorder
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Glucosamine 6-sulfatase defect
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Vertebral anomalous congenital syndrome
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant

Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides; The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency------------------Mucopolysaccharidoses; MPS; MPS Disorder; Subdivisions: MPS 1 H/S (Hurler/Scheie Syndrome); MPS I H (Hurler Disease); MPS I S (Scheie Syndrome); MPS II-(Hunter Syndrome); MPS III A, B, C, and D (Sanfillipo Syndrome); MPS IV A and B (Morquio Syndrome); MPS IX (Hyaluronidase Deficiency); MPS V (obsolete); MPS VI (Maroteaux-Lamy Syndrome); MPS VII (Sly Syndrome); MPS VIII (obsolete); The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders; Lysosomes function as the primary digestive units within cells; Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats; In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth; These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow; This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body; There are several different types and subtypes of mucopolysaccharidosis; These disorders, with one exception, are inherited as autosomal recessive traits; [NORD]


External Links Related to Mucopolysaccharidoses
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)