Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation.
We present a patient with MPS IH, homozygous for the W402X mutation. The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination.
Hendriksz
C J
CJ
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester M27 4HA, UK.
Moss
G M
GM
Wraith
J E
JE
D000028:Abortion, Induced; D000328:Adult; D016026:Bone Marrow Transplantation; D005260:Female; D006720:Homozygote; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D009154:Mutation; D010053:Ovary / Q000502:physiology; D011247:Pregnancy