MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO C SYNDROME

Question 1

What is  MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO C SYNDROME?

Accepted Answer

rare (1:400000)
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 3C; Sanfilippo-Krankheit Typ C; Heparan-Alpha-Glucosaminid N-Acetyltransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 252930

Question 4

Which enzymes are involved?

Accepted Answer

Heparan-alpha-glucosaminide N-acetyltransferase

Disease	MUCOPOLYSACCHARIDOSIS III; SAN FILIPPO C SYNDROME
Synonym	MPS3C
OMIM	252930 OMIM = Online Mendelian Inheritance of Men
Orphanet	79271
Protein (UniProt)	Heparan-alpha-glucosaminide N-acetyltransferase
ExPASy	2.3.1.78
Gene locus	8p11.2-p11.1
ICD	E76.2
Summary	rare (1:400000) autosomal recessive Types A, B, C, D type A is the most severe form
Laboratory findings	Acetyl-CoA: alpha-glucosaminide N-acetyltransferase dec (fibroblasts) Glycosaminoglycans, total inc (urine) Heparan sulfate inc (urine) Mucopolysaccharides inc (urine)
Symptoms	behavior, hyperactive, restless coarse facial features contractures, joints diarrhea dysostosis multiplex dysphagia hearing defect, deafness heart involvement hepatomegaly (large liver) hernia hirsutism inguinal hernia joint stiffness liver involvement or dysfunction mental retardation motor retardation onset, adolescent onset, childhood progressive neurologic defect retinitis pigmentosa seizures skin, pigmentation sleep disturbances splenomegaly (large spleen) swallowing difficulties X-ray, abnormalities