Sanfilippo syndrome type A in two adult sibs.
We report on 2 adult sibs with Sanfilippo syndrome type A (MPS IIIA; deficiency of heparin sulfamidase) who were less functionally impaired than other reported individuals with this disorder. These individuals expand our understanding of the range of clinical expression that one may see in Sanfilippo syndrome type A.
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
N M
NM
Lindor
A
A
Hoffman
J F
JF
O'Brien
N P
NP
Hanson
J N
JN
Thompson
D000328:Adult; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008297:Male; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000473:pathology*
D006025:Glycosaminoglycans