Mucopolusaccharidoses

Mucopolysaccharidoses

Mucopolysaccharidoses or MPSs are one of the rare diseases in the globe. So rare that it occurs 1 in 700,000 children, however it varies from region to region. It also differs in some or the other type of Mucopolysaccharidoses.

MPS is a hereditary disorder and is not noticeable until after the child is one or two years of age. At birth, the child seems to be perfectly fine. The progression starts to take effect after a year.

What is Mucopolysaccharidoses or MPS exactly?

MPS is the malfunctioning of lysosome enzymes which are unable to breakdown proteins or glucose (sugar) in simpler forms. This leads to the formation of chains of carbohydrates which are accumulated in many parts of the body. For example, bones, corneas, joints, connective tissues, and skin. These can also be found in rare areas like the respiratory system and central nervous system. Eventually, this results in the decline of physical and mental functions. Later, it’s visible in physical appearance, physical abilities, and cognitive development. Most of the cases are inherited by autosomal recessive manner, which means two copies of the abnormal gene must be present for the disease to grow and develop.

Symptoms contain children with multiple organ involvement, facial features, and abnormality of the skeleton. Most of the cases have dwarves, respiratory problems, and low neuro functioning. At an early age, usual symptoms are recurring cold, runny nose, delay in growth, and infections. The average form of this disorder may not be obvious until adolescence. MPS are chronic and not curable, but depending upon the severity of type, individuals may experience a growth towards the south in mental function. The most severe type of mucopolysaccharidoses is MPS 1-H or Hurler Syndrome. Affected children may experience signs such as the cloudy cornea, large tongue, deformity of the spine, and regression in mental development.

MPS has degrees of severity, and as the infant grows it might include neurological difficulties that are a danger to the neurons. Neurons are chemically composed wiring which sends signals to the whole body. One can only imagine how serious that becomes when an individual is not able to feel pain or not able to move his limbs. This must be very hard on the parents as well. The resulting damage is due to the pressure built up on the nerves which prevent it from sending signals or even receive any. Worst case scenario would be if affects the nerve roots in the spinal cord and nervous system that connects the body with the brain to sensory organs like fingertips, ears, skin, and eyes.

There are Seven different types of MPS, which are not broken down due to lysosomes, but because of dermatan sulfate, heparan sulfate, and keratan sulfate alone.

Recently, MPS is been named Glycosaminoglycans (GAGs). GAGs disorient cellular functions. These are produced frequently by the human body as they are the building blocks for bones, cartilage, and tendons. Consequently, old GAGs are removed from the body or broken down. In MPS, this carousel of breaking down components and removal of obsolete elements is failed.

What really causes Mucopolysaccharidoses?

Failure of breaking down mucopolysaccharidoses that result in accumulation in various parts of the body gives birth to this disorder. Since MPS is a genetic disease, they are determined by abnormal changes in a gene for a particular enzyme for a disorder. This kind of disorders are known as Recessive Genetic Disorders that occurs on inheriting one abnormal gene from each parent. The child will inherit the disease if he/she takes one normal and one abnormal gene from the parents.

Diagnoses of MPS is done with the help of clinical tests like urine analysis that detects levels of MPS in an individual. A test for enzymes may be performed to detect number of lysosomal enzymes in cells of the body.

Additionally, there can be performed prenatal tests, which means during pregnancy. This test involves analyzing the fluid which surrounds the fetus.

A newly approved screening that can help diagnose is Newborn Screening for MPS-I and MPS-II. For now, the screening is being used in a very limited number of regions around the globe.

Can it be Cured?

Unfortunately, Mucopolysaccharidoses or MPS cannot be cured. At the time, there is no solution for the rare disorder. Although, it is prescribed to take life-long medical care. Physical therapy has also proven to help individuals since there could be joints dysfunction and immobility can cause bed rest for life, which is not the prime choice.

Apart from small efforts for physical movement of the body, avoiding some foods may also help improve a person’s condition. Total prevention of milk, sugar, and dairy products can avoid the accumulation of MPS, which is one of the reasons for the disease.

Another treatment considered is the removal of tonsils and adenoids which are affected and improve obstructive breathing. Sleep studies of candidates help analyze whether or not they require extra night-time oxygen. Some of them require ET (Endotracheal) tube to privilege breathing.