Making a molecular diagnosis in X-linked recessive
disorders such as OTC is particularly important as it allows for prenatal screening and the detection of female carriers in the family.
Because BTHS, an X-linked recessive
disorder with several mitochondrial dysfunctions (12), has been associated with a possible remodeling defect of CL (10), we used our method to establish a procedure for the identification of BTHS patients.
Hypohidrotic Ectodermal Dysplasia, X-Linked Recessive
This is the most common type of ectodermal dysplasia; males are severely affected while females are carriers and very mildly affected.
1) As both conditions exhibit X-linked recessive
inheritance, they are observed almost exclusively in males.
There are many causes of nephrogenic DI, including congenital (a familial X-linked recessive
disorder), metabolic (hypercalcaemia, hypokalaemia), vascular (sickle cell disease), chronic renal disease (pyelonephritis, sarcoidosis) and iatrogenic (lithium, demeclocycline) (2).
Fabry's disease is an X-linked recessive
disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme [alpha]-galactosidase A as a consequence of one or more than four dozen mutations.
Steroid sulfatase is responsible for an X-linked recessive
ichthyosis (a corneocyte-retentive condition in which scales of keratin adhere to the skin).
They may be classified as autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive
modes of inheritance.
This method for diagnosing fetal gender can be used as a pre-test to determine whether invasive prenatal diagnoses, such as amniocentesis and chorionic villi sampling, should be performed on a fetus having a risk of X-linked recessive
It is an X-linked recessive
disorder, which is more prevalent in males than in females.
MPS II is the only exception; it is an X-linked recessive
disorder with a 1 in 2 chance of passing from a carrier mother to each of her male children.
Fabry disease is an X-linked recessive
disorder caused by the deficient activity of [alpha]-galactosidase ([alpha]-Gal; EC 3.