The diagnosis of MPS I is established in a proband with suggestive clinical and laboratory findings by: detection of deficient activity of the lysosomal enzyme α-L-iduronidase (IDUA) in combination with elevation of glycosaminoglycan levels and/or identification of biallelic pathogenic variants in IDUA on molecular genetic testing. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. Clinical onset is usually between ages three and ten years. ![]() Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life.Īttenuated MPS I. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. By age three years, linear growth decreases. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. Gibbus deformity of the lower spine is common and often noted within the first year. Coarsening of the facial features may not become apparent until after age one year. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. ![]() While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Some children may have normal intelligence and mild to severe physical symptoms this condition may be called Hurler-Scheie syndrome or MPS I H-S.Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity.By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent. Facial features become apparent during the first year, followed by widespread skeletal problems. For example, in the first year of life, they may have respiratory infections or an umbilical hernia, conditions found more often in children without the syndrome. These children often appear normal at birth with non-specific symptoms developing during the first year of life. The severe form of MPS I is known as Hurler syndrome or MPS I H: Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and hearing impairment, heart disease, and a shortened lifespan. ![]()
0 Comments
Leave a Reply. |
Details
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |