Mutations in the alpha-L-iduronidase (IDUA) gene located on chromosome 4 cause the MPS I disorders (Hurler, Hurler-Scheie, and Scheie syndromes
The MPS disorders are caused by absent or insufficient production of proteins known as lysosomal enzymes The specific enzyme that is deficient or absent distinguishes one type of MPS from another
Treatment of the MPS disorders primarily consists of supportive care and management of complications. Bone marrow transplant (BMT) and enzyme replacement are two promising therapies that offer the possibility of altering the course of these conditions
Each type of MPS is caused by a deficiency of one of the enzymes involved in breaking down GAGs.
MPS IV B is considered the milder form of the condition. The enzyme, beta-galactosidase, is deficient in MPS IV B. The gene involved with MPS IV B (GLB1) is located on chromosome 3.
Some examples of metabolic disorders inherited in an autosomal recessive manner include phenylketonuria (PKU), cystic fibrosis, and Tay-Sachs disease. In autosomal recessive inheritance, two copies of the abnormal gene are needed to manifest the disorder.
Common problems include abnormal heart valves, narrowing of the blood vessels in the heart, and weak heart muscles (cardiomyopathy). Patients with MPS I H and the severe form of MPS II usually have damage to the mitral valve
Mutations in the iduronate-2-sulphatase (IDS) gene cause both forms of MPS II (mild and severe). Nearly all individuals with Hunter syndrome are male, because the gene that causes the condition is located on the X chromosome.
The causes of genetic disorders areThey can be inherited through Parents;Mutations may occur;A deletion may occur.These are the causes of a genetic disorder.
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Hurler (MPS I H), Hurler-Scheie (MPS I H/S), Scheie (MPS I S), Hunter (MPS II), Sanfilippo (MPS III), Morquio (MPS IV), Maroteaux-Lamy (MPS VI),
528In total there are 646 Members of Parliament (MPs) in the UK Parliament. Excluding the 59 Scottish MPs, 18 Northern Irish MPs and 41 Welsh MPs, there are 528 English MPs.
The exact causes of impulse control disorders are not fully understood as of 2004. Individuals who have had serious head injuries, however, can be at a higher risk for developing impulse control disorders, as are those with epilepsy.