MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO D SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO D SYNDROME?

Accepted Answer

rare (1:1000000, 1:70000 all types)
autosomal recessive
Types A, B, C, D
type A is the most severe form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukopolysaccharidose Typ 3D; Sanfilippo-Krankheit Typ D; Glucosamin N-Acetyl-6-Sulfatase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252940

Question 4

Which enzymes are involved?

Accepted Answer

N-Acetylglucosamine-6-sulfatase

Disease	MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO D SYNDROME
Synonym	MPS3D
OMIM	252940 OMIM = Online Mendelian Inheritance of Men
Orphanet	79272
Protein (UniProt)	N-Acetylglucosamine-6-sulfatase
ExPASy	3.1.6.14
Gene locus	12q14.3
ICD	E76.2
Summary	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