Maroteaux-Lamy syndrome

Ma·ro·teaux-·La·my syn·drome

(mah-rō-tō' lah'mē), [MIM*253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age; autosomal recessive inheritance, caused by mutation in the arylsulfatase B gene (ARSB) on chromosome 5q. Synonym(s): arylsulfatase B deficiency, mucopolysaccharidosis type VI

Maroteaux-Lamy syndrome

(măr′ə-tō′lä-mē, mä-rô-)n. A type of mucopolysaccharidosis (MPS VI) characterized by the presence of dermatan sulfate in the urine, skeletal abnormalities, corneal clouding, hearing loss, and enlargement of the liver and spleen.

mucopolysaccharidosis type 6

An autosomal recessive lysosomal storage disease (OMIM:253200) characterised by intracellular accumulation of dermatan sulfate.

Clinical findings
Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects.

Molecular pathology
Defects in ARSB on chromosome 5q11-q13, which encodes arylsulfatase B, causes mucopolysaccharidosis type 6.

Lamy,

Maurice Emile Joseph, French physician, 1895-1975. Maroteaux-Lamy syndrome - see under Maroteaux

Maroteaux,

Pierre, French medical geneticist, 1926–. Maroteaux syndrome - metaphyseal dysostosis of the knees.Maroteaux-Lamy syndrome - an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, and skeletal deformities. Synonym(s): polydystrophic dwarfism; type VI mucopolysaccharidosisMaroteaux-Spranger-Wiedemann syndrome - genetic defects.

单词	maroteaux-lamy syndrome
释义	Maroteaux-Lamy syndrome Ma·ro·teaux-·La·my syn·drome (mah-rō-tō' lah'mē), [MIM253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age; autosomal recessive inheritance, caused by mutation in the arylsulfatase B gene (ARSB) on chromosome 5q. Synonym(s): arylsulfatase B deficiency, mucopolysaccharidosis type VI Maroteaux-Lamy syndrome (măr′ə-tō′lä-mē, mä-rô-)n. A type of mucopolysaccharidosis (MPS VI) characterized by the presence of dermatan sulfate in the urine, skeletal abnormalities, corneal clouding, hearing loss, and enlargement of the liver and spleen. mucopolysaccharidosis type 6 An autosomal recessive lysosomal storage disease (OMIM:253200) characterised by intracellular accumulation of dermatan sulfate. Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects. Molecular pathology Defects in ARSB on chromosome 5q11-q13, which encodes arylsulfatase B, causes mucopolysaccharidosis type 6. Lamy, Maurice Emile Joseph, French physician, 1895-1975. Maroteaux-Lamy syndrome* - see under Maroteaux Maroteaux, Pierre, French medical geneticist, 1926–. Maroteaux syndrome - metaphyseal dysostosis of the knees.Maroteaux-Lamy syndrome - an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, and skeletal deformities. Synonym(s): polydystrophic dwarfism; type VI mucopolysaccharidosisMaroteaux-Spranger-Wiedemann syndrome - genetic defects.
随便看	flight log flight mail transfer protocol flight maintenance manual flight management and guidance system flight management attitude questionnaire flight management computer flight-management computer flight management computer display unit flight management computer function flight management computer system flight management control panel flight management data system flight management function flight management guidance computer flight management guidance envelope computer flight management office flight management system flight management system computer flight management system procedure flight management systems flight management system trainer flight management team flight management unit flight maneuver flight manual