MUCOPOLYSACCHARIDOSIS IV; MORQUIO B SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS IV; MORQUIO B SYNDROME?

Accepted Answer

rare (1:300000)

autosomal recessive

MUCOPOLYSACCHARIDOSIS IV:

Type A: severe form
Type B: milder form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukopolysaccharidose Typ 4B; Morquio-Krankheit Typ B; Beta-D-Galactosidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 253010

Question 4

Which enzymes are involved?

Accepted Answer

beta-galactosidase

Disease	MUCOPOLYSACCHARIDOSIS IV; MORQUIO B SYNDROME
Synonym	MPS4B
OMIM	253010 OMIM = Online Mendelian Inheritance of Men
Orphanet	309310
Protein (UniProt)	beta-galactosidase
Gene locus	3p22.3
ICD	E76.2
Summary	rare (1:300000) autosomal recessive MUCOPOLYSACCHARIDOSIS IV: Type A: severe form Type B: milder form
Laboratory findings	beta-Galactosidase dec (fibroblasts) Keratan sulfate inc (urine) Mucopolysaccharides inc (urine)
Symptoms	aortic valvular disease chest deformity coarse facial features corneal deposits dental caries genu valgum growth retardation, poor growth hearing defect, deafness hepatomegaly (large liver) hernia hip dysplasia, hip dyslocation infections (severe or recurrent) inguinal hernia joint hypermobilty, dislocations, laxity joint laxity liver involvement or dysfunction myelopathy onset, childhood prominent lower face restrictive lung disease short neck short stature short trunk skoliosis, kyphoskoliosis Teeth: generalized defect or abnormalities X-ray, abnormalities