MUCOPOLYSACCHARIDOSIS TYPE IH/S; HURLER-SCHEIE SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS TYPE IH/S; HURLER-SCHEIE SYNDROME?

Accepted Answer

rare (1:435000)
autosomal reessive
mutation in the alpha-L-iduronidase gene (IDUA)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mukopolysaccharidose Typ 1H/S; Hurler-Scheie-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607015

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-L-iduronidase

Disease	MUCOPOLYSACCHARIDOSIS TYPE IH/S; HURLER-SCHEIE SYNDROME
OMIM	607015 OMIM = Online Mendelian Inheritance of Men
Orphanet	93476
Protein (UniProt)	Alpha-L-iduronidase
ExPASy	3.2.1.76
Gene locus	4p16.3
ICD	E76.0
Summary	rare (1:435000) autosomal reessive mutation in the alpha-L-iduronidase gene (IDUA)
Laboratory findings	Dermatan sulfate inc (urine) Heparan sulfate inc (urine)
Symptoms	corneal clouding dysostosis multiplex heart involvement hepatomegaly (large liver) hirsutism infections (severe or recurrent) onset, childhood onset, infancy pulmonary hypertension short stature skin, thickened small chin or micrognathia splenomegaly (large spleen) umbilical hernia