go back

MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO D SYNDROME

MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO D SYNDROME
MPS3D
252940
OMIM = Online Mendelian Inheritance of Men
79272
N-Acetylglucosamine-6-sulfatase
3.1.6.14
12q14.3
E76.2
rare (1:1000000, 1:70000 all types)
autosomal recessive
Types A, B, C, D
type A is the most severe form
Laboratory findings    Glycosaminoglycans, total inc (urine)
    Heparan sulfate inc (urine)
    Mucopolysaccharides inc (urine)
    N-Acetylglucosamine-6-sulfate sulfatase dec (fibroblasts)
Symptoms    behavior, hyperactive, restless
    blindness, visual loss, visual impairment
    coarse facial features
    contractures, joints
    diarrhea
    dysarthria
    dysostosis multiplex
    dysphagia
    hearing defect, deafness
    heart failure, cardiac failure
    hepatomegaly (large liver)
    hypertrichosis
    infections (severe or recurrent)
    inguinal hernia
    joint stiffness
    lethargy, drowsiness, apathy
    mental retardation
    onset, adolescent
    onset, childhood
    progressive neurologic defect
    splenomegaly (large spleen)
    swallowing difficulties
    X-ray, abnormalities