2007 ICD-9-CM Diagnosis Code 277.5
- autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.
- Inborn mucopolysaccharide metabolism disorder with alpha-L-iduronidase deficiency in leukocytes and fibroblasts and abnormal mucopolysaccharide incorporation and degradation by fibroblasts. Three types are recognized. All three types have similar laboratory findings, except that the fibroblasts in MPS-I-H are heat-stable, whereas in MPS-I-S they are heat-labile. Otherwise, the distinction is mainly clPinical. Johnie McL was the patient in whom the syndrome was observed, hence the synonym Johnie McL syndrome.mucopolysaccharidosis (MPS) I-H Synonyms: Hurler syndrome gargoylism) The most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental retardation, dysostosis multiplex, corneal clouding, and death before the age of 10 years because of pneumonia and heart failure. Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during the second year of life.mucopolysaccharidosis (MPS) I-S Synonyms: Scheie syndrome late Hurler syndrome forme fruste of Hurler syndrome Ullrich-Scheie syndrome Spat-Hurler syndrome A more moderate form which is marked by corneal opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications. The condition is seldom recognized during infancy or early childhood.mucopolysaccharidosis (MPS) H/I-S Synonyms: Hurler-Scheie syndrome, phenotype, compound, genetic compound, or syndrome An intermediate form between Hurler and Scheie syndromes, including short stature, dysostosis multiplex, hepatosplenomegaly, corneal clouding, umbilical or inguinal hernia, generally normal mental development with psychotic symptoms later in life, and death by age 25 years. The symptoms usually become apparent by the age of two years.
- any of a group of lysosomal storage diseases resulting from defects in degradation of glycosaminoglycans, which are excreted in urine and accumulate in tissue.
- A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects.
- lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance.
- An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure.
- mucopolysaccharidosis characterized by heparin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders.
- An inborn error of metabolism with a deficiency of enzymes involved in heparan sulfate (HS) degradation. The affected infants appear normal at birth with slowing of development taking place at about one to two years, occasionally not becoming apparent until early school age. Behavioral disorders, mental deterioration, and a loss of motor skills are the principal features. Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: A, B, C and D. The phenotype is similar in all four types and consists mainly of some facial coarsening with dull appearance, slightly sunken nasal bridge, and abundant scalp hair. Early development is usually normal, followed between the ages of 2 to 6 years by mainly behavioral disorders with progressive loss of mental and motor skills with spastic diplegia, the patient eventually becoming bedridden. Death usually takes place from 10 to 20 years of age. Type A has the most severe course with the earliest onset and mortality. Type A Synonyms: Sanfilippo syndrome A heparan sulfate sulfatase deficiency mucopolysaccharidosis IIIA (MPS IIIA) Caused by heparan sulfatase (EC 18.104.22.168) deficiency. Type B Synonyms: Sanfilippo syndrome B mucopolysaccharidosis IIIB (MPS IIIB) N-acetyl-alpha-D-glucosaminidase (NAG) deficiency N-acetyl-alpha-D-glucosaminidase (NAG) polymorphism] is caused by Caused by N-acetyl-alpha-D-glucosaminidase (EC 22.214.171.124) deficiency. Type C Synonyms: Sanfilippo syndrome C acetyl-CoA:alpha-glucosamide N-acetyltransferase deficiency mucopolysaccharidosis IIIC (MPS IIIC) Caused by acetyl-CoA:alpha-glucosamide N-acetyltransferase (EC 2.3.13) deficiency. Type D Synonyms: Sanfilippo syndrome D mucopolysaccharidosis IIID (MPS IIID) N-acetylglucosamine-6-sulfate sulfatase deficiency) C Caused by N-acetylglucosamine-6-sulfate sulfatase (126.96.36.199) deficiency.
- genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate.
- An inborn error of metabolism characterized by faulty degradation of keratan sulfate with lysosomal accumulation and mucopolysaccharidosis, keratansulfaturia. Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia with varying degrees of severity. Mental development is usually normal but progressive intellectual deterioration was reported in type B. Two types are recognized according to the enzymes involved: Type A: Synonyms: Morquio syndrome A galactosamine-4-sulfatase (GALNS) deficiency mucopolysaccharidosis (MPS) IV A This type is caused by galactosamine-6-sulfate sulfatase (EC 3.16.4) and is more severe than type B. It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive joint mobility, kyphosis or kyphoscoliosis, pectus carinatum, the sternum extending from clavicular junction and angling downward in midsection, spinal cord compression associated with atlantoaxial dislocation and thoracolumbar gibbus, protruding abdomen, and clouding of the cornea Type B: Synonyms: Morquio syndrome B Morquio-like syndrome beta-galactosidase deficiency mucopolysaccharidosis (MPS) IV B This type is caused by beta-galactosidase (EC 188.8.131.52) deficiency and is marked a milder phenotype consisting of dysostosis multiplex, pectus carinatum, odontoid hypoplasia, kyphosis, genua valga, platyspondyly, and corneal clouding.
- mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness; caused by a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase).
- An inborn error of metabolism characterized by arylsulfatase B (EC 184.108.40.206) deficiency preventing degradation of mucopolysaccharides with their accumulation in soft tissues causing obstructions and compression of the blood vessels, trachea, and peripheral nerves, and disruption of normal bone development, associated with the phenotype similar to that in MPS I but generally normal intelligence and mental retardation reported in a few isolated cases. Three basic types are recognized: Maroteaux-Lamy syndrome type B Synonym: mucopolysaccharidosis (MPS) VI B A mild type marked by usually normal childhood until about 6 years of age when short stature, Legg-Perthes-like changes of the hips, aortic stenosis, spinal deformities, corneal clouding, survival into adulthood. The intermediate type has the phenotype similar to that in mucolipidosis III with coarse Hurler-like facies, stiff joints with decreased mobility, and short stature. The severe type (sometimes designated Maroteaux-Lamy syndrome type A Synonym: mucopolysaccharidosis (MPS) VI A A severe typs usually associated with onset of symptoms in early childhood, a rapidly progressive course, and death in adolescence. Short stature, coarse facies, hyperextended head, corneal clouding, defective hearing, heart abnormalities, and musculoskeletal anomalies are the main characteristics.
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