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.