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.

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.
References in periodicals archive ?
Inventiva is also developing a second clinical program with odiparcil (IVA 336) for the treatment of patients with mucopolysaccaridosis type VI (or Maroteaux-Lamy syndrome), a rare and severe gene disease affecting children.
Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidosis, type VI).
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength.
The enzymatic defects in Morquio and Maroteaux-Lamy syndrome. Adv Exp Med Biol 1976;68:261-76.
Bilateral and multiple DCs have been reported to occur in association with the number of syndromes or systemic diseases including basal-cell nevus syndrome, Gardner's syndrome, Maroteaux-Lamy syndrome (mucopolysaccharidosis type IV), cleidocranial dysplasia, and Klippel-Feil syndrome [3-6].
Thus, it is also known as Maroteaux-Lamy syndrome. Since then, nearly 200 cases have been reported (Naeem et al., 2009).
Because of progressive coarsening of facial features and moderate intellectual disability due to a brief intelligence quotient of 55, consistent with the diagnosis of moderate intellectual disability, biochemistry enzyme assays were performed and ruled out the diagnoses of Sanfilippo syndrome, Hurler syndrome, and Maroteaux-Lamy syndrome. Urine amino acids, organic acids, and analysis of urinary oligosaccharides and glycosaminoglycans were normal by chromatography.
Contract award notice: hospital treatment - the drug program - treatment of mucopolysaccharidosis vi (maroteaux-lamy syndrome) from 04.05.2016r.
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)
INTRODUCTION: Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome, MPS VI) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (Arylsulfatase B, ARSB) gene, resulting in the accumulation of glycosaminoglycans (GAGs) in cells and tissues all over the body.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
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.