What are mucopolysaccharidoses?
The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans—long chains of sugars (carbohydrates) in each of our cells. These cells help build bone, cartilage, tendons, corneas, skin, and connective tissue.
What are gags (mucopolysaccharides)?
GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly.
What is the pathophysiology of mucopolysaccharidosis II (MPS II)?
MPS II is the only mucopolysaccharidosis disorder in which the mother alone can pass the defective gene to a son (called X-linked recessive). The disease is almost exclusively found in young males, although cases of affected females have been reported.
Is mucopolysaccharidosis autosomal recessive or dominant?
Most mucopolysaccharidoses are autosomal recessive disorders, meaning that only individuals inheriting the defective gene from both parents are affected. (The exception is MPS II, or Hunter syndrome, in which the mother alone passes along the defective gene to a son.)
What are the 3 macronutrients Milady?
The three basic food groups: proteins, carbohydrates, and fats.
What are disaccharides Milady?
disaccharides: sugars made up of two simple sugars such as lactose and sucrose. enzymes: catalyst that break down complex food molecules to utilize extracted energy.
What is one of the functions of the antioxidant vitamin A Milady?
What is one of the functions of the antioxidant vitamin A? aids in the functioning and repair of the skin cells.
What are the organic acids that form the building blocks of protein Milady?
55 Cards in this SetWhat type of food should you choose?High in nutrients and low in calorieSubstance that provides energy to cells and converts oxygen into carbon dioxide.Adenosine triphosphate (ATP)Organic acids that form the building blocks of proteins.Amino acids52 more rows
What are liposomes Milady?
Liposomes. Closed lipid bilayer spheres that encapsulate ingredients, target their delivery to specific area of skin, and control their release.
What is an enzyme Milady?
Biological catalysts made of protein and vitamins. They break down complex food molecules into smaller molecules to utilize the energy extracted from food.
What are the 7 nutrients and their functions?
There are seven main classes of nutrients that the body needs. These are carbohydrates, proteins, fats, vitamins, minerals, fibre and water. It is important that everyone consumes these seven nutrients on a daily basis to help them build their bodies and maintain their health.
What are the 5 main nutrients and their functions?
They include the following five:Carbohydrates. Main function: Provide energy. ... Protein. Main function: Build and repair tissue. ... Fats. Main function: Provide backup energy. ... Vitamins and Minerals. Main function: Maintain optimal health. ... Water.
What is the function of the mineral magnesium Milady?
Magnesium is required for energy release and protein synthesis, preventing tooth decay, and maintaining nerve and muscle movement. Phosphorus is present in DNA and is involved in energy release. It is needed for bone formation and cell growth, and it assists in vitamin and food energy processes.
What is an example of an organic substance Milady?
Terms in this set (17) What are some examples of organic substances? gasoline, plastics, synthetic fabrics, pesticides, and fertilizers are all organic substances. What is the simplest form of chemical matter?
How many amino acids are there Milady?
How many common amino acids are there? 20.
What are the basic material and building blocks?
Proteins are the basic material and building blocks of the body tissues. Skin is highly absorbent.
What are disaccharides?
A disaccharide, also called a double sugar, is a molecule formed by two monosaccharides, or simple sugars. Three common disaccharides are sucrose, maltose, and lactose. They have 12 carbon atoms, and their chemical formula is C12H22O11. Other, less common disaccharides include lactulose, trehalose, and cellobiose.
What is a disaccharide simple definition?
disaccharide, also called double sugar, any substance that is composed of two molecules of simple sugars (monosaccharides) linked to each other.
Which is a disaccharide quizlet?
Sucrose is a disaccharide composed of fructose and glucose.
What are disaccharides and their functions?
What Is a Disaccharide? A disaccharide is a carbohydrate composed of two monosaccharides, which are more often referred to as simple carbohydrates. In your body, a disaccharide function is to provide your body with a quick source of energy.
What is the management team for mucopolysaccharidosis type 1?
Management of mucopolysaccharidosis type I (MPS I) requires a multidisciplinary team given the wide range of symptoms. This team may include: primary care; cardiology; pulmonology; gastroenterology; neurology; ear, nose, and throat specialists; audiology; ophthalmology; orthopedics; physical therapy; dental; and developmental specialists. [4]
When does mucopolysaccharidosis type 1 start?
The signs and symptoms of mucopolysaccharidosis type I (MPS I) are not present at birth, but they begin to appear during childhood. People with severe MPS I develop the features of this condition earlier than those with attenuated MPS I. The following list includes the most common signs and symptoms of MPS I: [1]
What causes MPS I?
MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes.
What are the three MPS I syndromes?
This leads to the medical problems seen in the condition. [1] [2] MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe.
How is MPS I inherited?
Mucopolysaccharidosis type I (MPS I) is inherited in an autosomal recessive manner. [1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
What is MPS I?
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition. [1] [2]
What chapter is Milady's Esthetics?
Milady's Esthetics chapter 20: The world of make up
What are the two molecular sugars?
made up of two molecular sugar units. Lactose and sucrose
What is the chemical sugar that supplies energy for the body?
break down the basic chemical sugars that supply energy for the body, mostly important glucose
Does polyunsaturated fat decrease cardiovascular risk?
good polyunsaturated fat that may decrease the likelihood of cardiovascular diseases
How many different forms of mucopolysaccharidosis are there?
As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form.
What is the term for a group of inherited conditions in which the body is unable to properly breakdown mucop?
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems.
What is MedlinePlus?
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders.
How many different types of mucopolysaccharidoses are there?
Seven distinct clinical types and numerous subtypes of the mucopolysaccharidoses have been identified. Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function.
How does mucopolysaccharidosis affect the body?
Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning.
What are the symptoms of mucopolysaccharidose?
Depending on the mucopolysaccharidosis subtype, affected individuals may have normal intellect or have cognitive impairments, may experience developmental delay, or may have severe behavioral problems. Many individuals have hearing loss, either conductive (in which pressure behind the eardrum causes fluid from the lining of the middle ear to build up and eventually congeal), neurosensory (in which tiny hair cells in the inner ear are damaged), or both. Communicating hydrocephalus—in which the normal reabsorption of cerebrospinal fluid is blocked and causes increased pressure inside the head—is common in some of the mucopolysaccharidoses. Surgically inserting a shunt into the brain can drain fluid. The eye's cornea often becomes cloudy from intracellular storage, and glaucoma and degeneration of the retina also may affect the patient's vision.
What are the clinical features of mucolipidosis?
Persons with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain), and increased amounts of the enzymes needed to break down the lipids are found in the blood.
What is the disease of lysosomal storage?
Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. In this disorder, excessive amounts of fatty materials known as lipids (another principal component of living cells) are stored, in addition to sugars.
What is the term for the absence of lysosomal enzymes that break down glycosamino?
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.
How many babies have MPS I?
Although no studies have been done to determine the frequency of MPS I in the United States, studies in British Columbia estimate that 1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births.
What is a mucopolysaccharidose?
The mucopolysaccharidoses (MPSs) are a family of disorders due to inherited defects in the catabolism of sulfated components of connective tissue known as glycosaminoglycans (GAGs). GAGs are long-chain complex carbohydrates consisting of a variety of uronic acids, amino sugars, and neutral sugars. They are usually linked to proteins ...
What is the cumulative rate of mucopolysaccharidose?
The crude cumulative rate for all types of MPS is around 3.5 in 100 000 live births and generally the patients present in one of three ways:
What is MPS in genetics?
Mucopolysaccharidosis (MPS) is a constellation of several genetic diseases that are due to deficiency in any of 11 enzymes that contribute to the degradation of glycosaminoglycans (GAGs). MPS I is known as Hurler syndrome and Scheie syndrome in the severe and attenuated forms, respectively, and is due to deficiency of α-l -iduronidase, an enzyme that cleaves the sugar known as iduronic acid from GAG chains. MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), MPS VI (Maroteaux–Lamy syndrome), and MPS VII (Sly syndrome) are due to deficiency of other enzymes that contribute to degradation of GAGs. All of these diseases result in the accumulation of GAGs in the lysosome and eventually the extracellular space and cause multisystemic disease through mechanisms that are still being studied, but likely include the induction of inflammation and destruction of tissues such as bone, cartilage, aorta, and heart valve components. The manifestations of disease can vary with the type of MPS, but can include neurological dysfunction including mental retardation, reduced mobility due to bone and joint disease, and cardiovascular disease due to abnormal heart valves and dilated blood vessels. One current treatment is hematopoietic stem cell transplantation (HSCT), which is most effective when performed as early as possible in life and is not effective for all types of MPS; this treatment has prolonged life and improved some aspects of disease, but is not totally curative. Enzyme replacement therapy (ERT) involves intravenous injection of enzyme as often as once a week, after which enzyme can diffuse to tissues and be taken to the lysosome where it is needed. ERT is not yet available for some types of MPS due to the cost of drug development and/or the perception that enzyme cannot reach the brain very efficiently. ERT has reduced several aspects of disease, but this therapy is relatively new and it is unclear how effective it will be in the long term. Gene therapy is being investigated as a way to achieve continuous expression of enzyme in the body and has been quite effective in several animal models, but has not been used in humans with MPS.
What are the major constituents of connective tissue?
Proteoglycans are the major constituent of the ground substance of connective tissue and they are also present in mitochondria and nuclear and cell membranes. The major GAGs are chondroitin-4-sulfate (C4S), chondroitin-6-sulfate (C6S), heparan sulfate (HS), dermatan sulfate (DS), keratan sulfate (KS), and hyaluronic acid (HA).
What is MPS II?
MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), MPS VI (Maroteaux–Lamy syndrome), and MPS VII (Sly syndrome) are due to deficiency of other enzymes that contribute to degradation of GAGs. All of these diseases result in the accumulation of GAGs in the lysosome and eventually the extracellular space ...
What is MPS in medical terms?
Mucopolysaccharidosis (MPS) is a group of disorders in which a deficiency of certain lysosomal enzymes normally responsible for the breakdown of glucosaminoglycans results in an accumulation and deposition of undegraded or partially degraded glucosaminoglycans in the lysosomes of many tissues.
What are the manifestations of MPS?
The manifestations of disease can vary with the type of MPS, but can include neurological dysfunction including mental retardation, reduced mobility due to bone and joint disease, and cardiovascular disease due to abnormal heart valves and dilated blood vessels.
What are the features of MPS I?
Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some people with MPS I, causing frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).
What are the symptoms of MPS I?
Affected individuals may also have hearing loss and recurrent ear infections. Some individuals with MPS I have short stature and joint deformities (contractures) that affect mobility. Most people with the severe form of the disorder also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. ...
What is MPS I?
Description. Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each ...
How many newborns have MPS I?
Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS I is less common and occurs in about 1 in 500,000 newborns.
How long do MPS I patients live?
Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan.
How does MPS I affect people?
While both forms of MPS I can affect many different organs and tissues, people with severe MPS I experience a decline in intellectual function and a more rapid disease progression. Developmental delay is usually present by age 1, and severely affected individuals eventually lose basic functional skills (developmentally regress). Children with this form of the disorder usually have a shortened lifespan, sometimes living only into late childhood. Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan. Some people with the attenuated type have learning disabilities, while others have no intellectual impairments. Heart disease and airway obstruction are major causes of death in people with both types of MPS I.
Is MPS I severe or attenuated?
Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia).
