MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO A SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO A SYNDROME?

Accepted Answer

rare (1:130000)
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 3A; Sanfilippo-Krankheit Typ A; Heparan-Sulfamidase-Mangel;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252900

Question 4

Which enzymes are involved?

Accepted Answer

N-sulphoglucosamine sulphohydrolase

Disease	MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO A SYNDROME
Synonym	MPS3A
OMIM	252900 OMIM = Online Mendelian Inheritance of Men
Orphanet	79269
Protein (UniProt)	N-sulphoglucosamine sulphohydrolase
ExPASy	3.10.1.1
Gene locus	17q25.3
ICD	E76.2
Summary	rare (1:130000) autosomal recessive Types A, B, C, D type A is the most severe form
Laboratory findings	Glycosaminoglycans, total inc (urine) Heparan sulfate inc (urine) Heparan-N-sulfamidase dec (fibroblasts) Mucopolysaccharides inc (urine)
Symptoms	behavior, autism or autistic-like behavior, hyperactive, restless cardiomyopathy coarse facial features contractures, joints diarrhea dysmorphism dysostosis multiplex hearing defect, deafness heart involvement hepatomegaly (large liver) hirsutism hypertrichosis infections (severe or recurrent) inguinal hernia joint stiffness lethargy, drowsiness, apathy mental retardation onset, adolescent onset, childhood progressive neurologic defect seizures skin defects sleep disturbances splenomegaly (large spleen) swallowing difficulties X-ray, abnormalities