MUCOPOLYSACCHARIDOSIS VII; SLY SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS VII; SLY SYNDROME?

Accepted Answer

very rare (1:1500000)
autosomal recessive
2 types: a severe neonatal form may be present in utero and at birth (hydrops fetalis)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukopolysaccharidose Typ 7; Sly-Krankheit; Beta-Glucuronidasemangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 253220

Question 4

Which enzymes are involved?

Accepted Answer

Beta-glucuronidase

Disease	MUCOPOLYSACCHARIDOSIS VII; SLY SYNDROME
Synonym	MPS7
OMIM	253220 OMIM = Online Mendelian Inheritance of Men
Orphanet	584
Protein (UniProt)	Beta-glucuronidase
Gene locus	7q11.21
ICD	E76.2
Summary	very rare (1:1500000) autosomal recessive 2 types: a severe neonatal form may be present in utero and at birth (hydrops fetalis)
Laboratory findings	beta-Glucuronidase dec (fibroblasts) Chondroitin 4/6 sulfate inc (urine) Chondroitin-4-sulfate inc (urine) Dermatan sulfate inc (urine) Glycosaminoglycans, total inc (urine) Heparan sulfate inc (urine) Mucopolysaccharides inc (urine)
Symptoms	coarse facial features contractures, joints corneal clouding corneal deposits dysostosis multiplex Granulocytes, metachromatic hearing defect, deafness hepatomegaly (large liver) hirsutism hydrocephalus hydrops fetalis hypertrichosis infections (severe or recurrent) inguinal hernia macrocephaly (large calvaria, >2 SD for age) mental retardation onset, childhood onset, fetus prominent abdomen short stature splenomegaly (large spleen) umbilical hernia valvular heart disease