Mucopolysaccharidosis type II in females: case report and review of literature.
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Mucopolysaccharidosis type II in females: case report and review of literature. / Tuschl, Karin; Gal, Andreas; Paschke, Eduard; Kircher, Susanne; Bodamer, Olaf A.
In: PEDIATR NEUROL, Vol. 32, No. 4, 4, 2005, p. 270-272.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Mucopolysaccharidosis type II in females: case report and review of literature.
AU - Tuschl, Karin
AU - Gal, Andreas
AU - Paschke, Eduard
AU - Kircher, Susanne
AU - Bodamer, Olaf A
PY - 2005
Y1 - 2005
N2 - Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females are rare. The disease phenotype in this case is due to complete unilateral inactivation of the nonmutant paternal X chromosome of the patient. The case presented here underscores the fact that a diagnosis of mucopolysaccharidosis type II should be suspected in any female who presents with the relevant clinical symptoms.
AB - Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females are rare. The disease phenotype in this case is due to complete unilateral inactivation of the nonmutant paternal X chromosome of the patient. The case presented here underscores the fact that a diagnosis of mucopolysaccharidosis type II should be suspected in any female who presents with the relevant clinical symptoms.
M3 - SCORING: Zeitschriftenaufsatz
VL - 32
SP - 270
EP - 272
JO - PEDIATR NEUROL
JF - PEDIATR NEUROL
SN - 0887-8994
IS - 4
M1 - 4
ER -
