MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO B SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO B SYNDROME?

Accepted Answer

rare (1:230000)
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 3B; Sanfilippo-Krankheit Typ B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252920

Question 4

Which enzymes are involved?

Accepted Answer

alpha-N-Acetylglucosaminidase

Disease	MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO B SYNDROME
Synonym	MPS3B
OMIM	252920 OMIM = Online Mendelian Inheritance of Men
Orphanet	79270
Protein (UniProt)	alpha-N-Acetylglucosaminidase
ExPASy	3.2.1.50
Gene locus	17q21.2
ICD	E76.2
Summary	rare (1:230000) autosomal recessive Types A, B, C, D type A is the most severe form
Laboratory findings	alpha-N-Acetylglucosaminidase dec (fibroblasts) Glycosaminoglycans, total inc (urine) Heparan sulfate inc (urine) Mucopolysaccharides inc (urine)
Symptoms	behavior, hyperactive, restless cardiomegaly coarse facial features contractures, joints diarrhea dysostosis multiplex hair, abnormal (thin, brittle, fine) hearing defect, deafness hepatomegaly (large liver) hirsutism hypertrichosis inguinal hernia joint stiffness liver involvement or dysfunction mental retardation onset, adolescent onset, childhood progressive neurologic defect seizures sleep disturbances splenomegaly (large spleen) X-ray, abnormalities