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Sanfilippo A syndrome in the fetus
Author(s) -
Greenwoods Robert S.,
Hillman Richard E.,
Alcala Hilda,
Sly William S.
Publication year - 1978
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1978.tb01177.x
Subject(s) - amniocentesis , fetus , proband , amniotic fluid , mucopolysaccharidosis , medicine , hunter syndrome , glycosaminoglycan , prenatal diagnosis , endocrinology , pathology , pregnancy , biology , anatomy , genetics , mutation , gene
A family is reported in which Sanfilippo A syndrome affected three siblings: the proband and twin premature infants. The feasibility of intrauterine diagnosis of mucopolysaccharidoses (MPS) Type IIIA, was demonstrated by the excessive accumulation of 35 SO 4‐ mucopolysaccharides in fibroblasts cultured from amniotic fluid obtained by amniocentesis. Cross‐correction studies and enzymatic analysis of cultured skin fibroblasts from the proband and the infants revealed the absence of the MPS IIIA correction factor, heparan sulfate sulfatase. However, when the premature infants expired shortly after birth, no central nervous system histopathology or ultrastructural abnormalities were found. From these observations it would appear that the third trimester fetus with MPS type IIIA has little CNS involvement.