Disease Information for Sanfilippo's mucopolysaccharidosis synd

Clinical Manifestations
Signs & Symptoms
Palpable Liver/Hepatomegaly
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Gait disturbance/abnormality
Hypereactive Child
Hypereactive/on exam
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Motor slowing
Progressive neurological disorder/signs
Slow Motor Development
Staggering Gait
Unable to tandem walk/straight line
Unable to walk
Destructive Behavior
Hyperactivity, child/signs
Psychomotor retardation
Short attention span
Dysmorphic dwarfism/short stature
Stiffness of joints
Delayed speech development/impediment
Dysmorphic appearance/face
Nervousness/excitability/hyperactive adult
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal possible/not usual
Onset/Before puberty
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Heparan sulfate
URINE Mucopolysaccharides
Diagnostic Test Results
Xray/Dysostosis multiplex findings
Xray/Skull bones thickened
Associated Diseases & Rule outs
Associated Disease & Complications
Developmental neurologic degeneration/child
Dysostosis multiplex
Mental retardation
Neurodevelopmental disorders
Sanfilippo's mucopolysaccharide syndrome
Skeletal dysplasia
Skeletal/bone malformations
Thoracolumbar gibbus deformity
Ataxia Disorder
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/Multisystem disease
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Accumulation Heparan Sulfate
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Storage disorder (ex)
PROCESS/Variant expressions/Subsets (ex)
heparitinuria, HS mucopolysaccharidosis, IIIs Mucopolysaccharidosis, MPS 3, MPS III, mucopolysaccharide storage disease III, mucopolysaccharidosis (MPS) III (A B C D), Mucopolysaccharidosis 3, Mucopolysaccharidosis III, Mucopolysaccharidosis IIIs, Mucopolysaccharidosis MPS III, Mucopolysaccharidosis type III, Mucopolysaccharidosis type III (MPS III), OLIGOPHRENIA POLYDYSTROPHIC, Oligophrenias Polydystrophic, Polydystrophic Oligophrenia, Polydystrophic Oligophrenias, San Filippo Syndrome, San Filippos Syndrome, San Filippo's Syndrome, Sanfilippo disease, Sanfilippo disease (A B C D), Sanfilippo syndrome, Sanfilippo syndrome (A B C D), Sanfilippo syndrome (disorder), Sanfilippos Syndrome, Sanfilippo's syndrome, Syndrome San Filippo's, Syndrome Sanfilippo's, type III mucopolysaccharidosis, Synonym/MPS III syndrome, Synonym/Polydystrophic oligophrenia, Synonym/Sanfilippo types A,B,C,D enzyme defects, Synonym/Type III mucopolysaccharidosis

Mucopolysaccharidosis Type III; MPS III; MPS disorder III; mucopolysaccharide storage disease type III; oligophrenic polydystrophy; polydystrophia oligophrenia; Subdivisions: Sanfilippo disease (types A, B, C, and D); Sanfilippo syndrome (types A, B, C, and D); The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules; High concentrations of mucopolysaccharides in the cells of the central nervous system, including the brain, cause the neurological and developmental deficits that accompany these disorders;

Mucopolysaccharides are rather thick jelly-like ("muco") compounds made of long chains (‘poly’) of sugar-like (saccharides) molecules used to make connective tissues in the body; Lysosomal enzymes are found in the lysosome, a very small membrane-contained body (organelle) found in the cytoplasm of most cells; The lysosome is often called the “waste disposal plant” of the cell; The accumulation of these large, undegraded mucopolysaccharides in the cells of the body is the cause of a number of physical symptoms and abnormalities; MPS-III (Sanfilippo Syndrome) is one of seven MPS Disorders; It is an inborn error of metabolism that is transmitted as an autosomal recessive genetic disorder; MPS-lll has been subdivided into four types: MPS-III Type A, MPS-III Type B, MPS-III Type C, and MPS-III Type D; All types are associated with some degree of mental deterioration, but the severity depends on the particular type of MPS-lll; Several physical defects may be present, and the severity of these defects varies with the type of MPS-III; In the case of each type of MPS-III, abnormal amounts of a specific, chemically complex molecule is excreted in the urine; The excreted chemical is the same for each of the four types of MPS-III, since the defective gene involves a different step, and thus a different enzyme, in the deconstruction of the same mucopolysaccharide; By testing for one or another of these enzymes, the variant type may be readily identified; [NORD]


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