Maroteaux-Lamy syndrome


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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.

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.

Maroteaux-Lamy syndrome

[märōtō′ lämē′]
Etymology: Pierre Maroteaux, French physician, b. 1926; Maurice Emile Joseph Lamy, French physician, 1895-1975
a mucopolysaccharidosis characterized biochemically by the predominance of the mucopolysaccharide dermatan sulfate in the urine and the presence of coarse granules in the leukocytes and clinically by Hurler-like signs with normal intelligence. There are three clinical forms: the severe or classic form shows Hurler-like symptoms (see Hurler's syndrome); the intermediate form has the same phenotype as pseudo-Hurler polydystrophy; and the mild form is difficult to distinguish from the Scheie's syndrome. Also called mucopolysaccharidosis VI.

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 mucopolysaccharidosis
Maroteaux-Spranger-Wiedemann syndrome - genetic defects.

Maroteaux-Lamy syndrome

mucopolysaccharidosis VI.
References in periodicals archive ?
400: Cholelithiasis in Two MPS VI Patients: Expanding the Phenotype of Maroteaux-Lamy Syndrome (Lourenco et al)
MPS VI, also known as Maroteaux-Lamy Syndrome, is an inherited debilitating, life-threatening disease which affects approximately 1,100 people worldwide.
FIGURE 13 GLOBAL PRODUCT REVENUES FOR MAROTEAUX-LAMY SYNDROME TREATMENTS BY MANUFACTURER, 2007-2014 ($ MILLIONS) 82
TABLE 22 PHARMACEUTICAL TREATMENTS FOR MAROTEAUX-LAMY SYNDROME 52
The use of galsulfase (Naglazyme) for Maroteaux-Lamy syndrome during pregnancy is under study by the Mucopolysaccharidosis VI (MPS VI) Clinical Surveillance Program (415-506-6849 or 415-506-6703)
After more tests, the bottom dropped out of Shahida's world when a consultant explained her wee boy was suffering from Maroteaux-Lamy syndrome, a progressive, genetic illness and was unlikely to live past childhood.
MPS VI, also known as Maroteaux-Lamy syndrome, is a life-threatening lysosomal storage disorder for which no specific drug treatments currently exist.