What is sulfatase enzyme?
Sulfatases are enzymes that catalyze the hydrolysis of sulfate esters of complex macromolecules such as glycosaminoglycans and sulfatides (Diez-Roux and Ballabio, 2005).
What does a sulfatase do?
Sulfatases EC 3.1. 6. – are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters. These may be found on a range of substrates, including steroids, carbohydrates and proteins.
Where do sulfatases reside?
Sulfatases are found in lower and higher organisms. Lower eukaryotic, and bacterial sulfatases are soluble and have been found to reside in cytoplasmic, periplasmic, and extracellular regions. In higher organisms they are found in intracellular and extracellular spaces.
What is Austin disease?
Austin disease is one of the many forms of lysosomal storage disease caused by a defective gene involved in the production of sulfatase enzymes. In humans, the SUMF1 gene codes for the formylglycine generating enzyme (FGE). A pathologic mutation in SUMF1 gene results in the deficiency of the FGE.
What is placental sulfatase deficiency?
Sulfatase deficiency is probably a congenital, sex-specific, X-linked placental enzyme defect. A special therapy is not necessary but the antepartum diagnosis is important because this benign disorder has to be discriminated from the more serious fetal adrenal hypoplasia.
What is steroid sulfatase deficiency?
Summary: Placental steroid sulfatase deficiency is a genetic disorder only recently reported in the medical literature. Most documented cases of placental sulfatase deficiency have been marked by delay in onset of labor, lack of cervical dilatation, and relative refractoriness of oxytocic agents and amniotomy.
What is Austin syndrome?
Definition. A type of lysosomal storage disease that is often caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, resulting in the accumulation of lipids and mucopolysaccharides inside the lysosomes.
What is William’s Syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.
What causes Austin?
What is post maturity syndrome?
“Dysmaturity” or “postmaturity” syndrome refers to a fetus whose weight gain in the uterus after the due date has stopped, usually due to a problem with delivery of blood to the fetus through the placenta, leading to malnourishment. After birth, these infants have a distinctive appearance.
What is post term delivery?
What is a post-term pregnancy? A pregnancy that lasts more than 42 weeks is called post-term. A pregnancy that is between 41 and 42 weeks is called late-term. Most women deliver between 37 and 42 weeks of pregnancy.
What are the different types of ichthyosis?
Five distinct types of inherited ichthyosis are noted, as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma, and X-linked ichthyosis.
How are sulfatases related to lysosomal storage disorders?
Genetic defects in sulfatase activity can arise through mutations in individual sulfatases and result in certain lysosomal storage disorders with a spectrum of phenotypes ranging from defects in physical and intellectual development. The following sulfatases have been shown to be structurally related based on their sequence homology:
Which is enzyme catalyzes hydrolysis of sulfate esters?
Steroid sulfatase. Sulfatases EC 3.1.6.- are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters. These may be found on a range of substrates, including steroids, carbohydrates and proteins.
What kind of enzyme is sulfatase EC 3.1.6?
Sulfatases EC 3.1.6.- are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters.
Where are sulfatases found in the human body?
Together with sulfotransferases, sulfatases form the major catalytic machinery for the synthesis and breakage of sulfate esters. Sulfatases are found in lower and higher organisms. In higher organisms they are found in intracellular and extracellular spaces.