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MPS IX
Hyaluronidase deficiency is a condition caused by mutations in HYAL1, and characterized by multiple soft-tissue masses. Signs and Symptoms As hyaluronidase deficiency is an extremely rare disorder a clear clinical picture of the disease has not been formed. However, the following symptoms may occur: *Multiple soft tissue masses which may experience temporary episodes of painful swelling. *Temporary episodes of generalised cutaneous swelling. *Frequent episodes of otitis media. *Short stature. *Mildy dysmorphic facial features such as a flattened nasal bridge, bifid uvula and a submucosal cleft palate. *Joint movement and intellectual ability are unaffected. See also * Morquio syndrome * Hunter syndrome * Hurler syndrome * Skin lesion References External links Skin conditions resulting from errors in metabolism {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosome, lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the Cell (biology), cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in Synovial fluid, 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. 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. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HYAL1
Hyaluronidase-1 is an enzyme that in humans is encoded by the ''HYAL1'' gene. Function This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. Structure HYAL1 was first purified from human plasma and urine. The enzyme is 435 amino acids long with a molecular weight of 55-60 kDa. The crystal structure of HYAL1 was determined by Chao, Muthukumar, and Herzberg. The enzyme is composed of two closely associated ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cutaneous
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other animal coverings, such as the arthropod exoskeleton, have different developmental origin, structure and chemical composition. The adjective cutaneous means "of the skin" (from Latin ''cutis'' 'skin'). In mammals, the skin is an organ of the integumentary system made up of multiple layers of ectodermal tissue and guards the underlying muscles, bones, ligaments, and internal organs. Skin of a different nature exists in amphibians, reptiles, and birds. Skin (including cutaneous and subcutaneous tissues) plays crucial roles in formation, structure, and function of extraskeletal apparatus such as horns of bovids (e.g., cattle) and rhinos, cervids' antlers, giraffids' ossicones, armadillos' osteoderm, and os penis/os clitoris. All mammals have some hair on their skin, even marine mammals like whales, dolphins, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Otitis Media
Otitis media is a group of inflammatory diseases of the middle ear. One of the two main types is acute otitis media (AOM), an infection of rapid onset that usually presents with ear pain. In young children this may result in pulling at the ear, increased crying, and poor sleep. Decreased eating and a fever may also be present. The other main type is otitis media with effusion (OME), typically not associated with symptoms, although occasionally a feeling of fullness is described; it is defined as the presence of non-infectious fluid in the middle ear which may persist for weeks or months often after an episode of acute otitis media. Chronic suppurative otitis media (CSOM) is middle ear inflammation that results in a perforated tympanic membrane with discharge from the ear for more than six weeks. It may be a complication of acute otitis media. Pain is rarely present. All three types of otitis media may be associated with hearing loss. If children with hearing loss due to OME do no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uvula
The palatine uvula, usually referred to as simply the uvula, is a conic projection from the back edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. It also contains many serous glands, which produce thin saliva. It is only found in human beings. Structure Muscle The muscular part of the uvula () shortens and broadens the uvula. This changes the contour of the posterior part of the soft palate. This change in contour allows the soft palate to adapt closely to the posterior pharyngeal wall to help close the nasopharynx during swallowing. Its muscles are controlled by the pharyngeal branch of the vagus nerve. Variation A bifid or bifurcated uvula is a split or cleft uvula. Newborns with cleft palate often also have a split uvula. The bifid uvula results from incomplete fusion of the palatine shelves but it is considered only a slight form of clefting. Bifid uvulas have less muscle in them th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
