Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.2.1.21 (
beta-glucosidase
)
3,280
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mucopolysaccharidosis type VII
was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work-up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation.
Mucopolysaccharidosis type VII
(
MPS VII
) or
Sly syndrome
is a rare autosomal recessive lysosomal storage disease, caused by the deficiency of the enzyme beta-glucuronidase. The most severe form of
MPS VII
manifests itself by non-immune fetal hydrops. Tests for the diagnosis of metabolic disorders, especially lysosomal diseases, are essential when the major causes of hydrops fetalis have been excluded. The presence of a
beta-glucosidase
deficiency, Gaucher's disease, in the infant of the patient's sister emphasizes the importance of a complete family history in consanguineous couples and the risk for several recessive diseases in some families.
...
PMID:In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency. 1108 74
