Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA.
Clin Biochem
; 46(7-8): 688-90, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23274385
ABSTRACT
OBJECTIVES:
We report the case of a 28-year-old female subject affected by the attenuated phenotype of mucopolysaccharidosis type IIIA characterized by moderate slowly evolving mental retardation in which the urinary content of heparan sulfate was demonstrated as being substantially low compared to that found in patients with the severe phenotype. DESIGN ANDMETHODS:
The specific evaluation of macromolecular heparan sulfate by electrophoresis and the determination of related glucosamine in the urine were performed.RESULTS:
In our patient, the urinary macromolecular heparan sulfate content (4.2µg/mg creatinine) was ~7.5-times higher than in healthy subjects (0.56µg/mg creatinine±0.9 SD) while it was ~28-times lower compared to the severe mucopolysaccharidosis IIIA group (117µg/mg creatinine±44.8 SD). Furthermore, the urinary glucosamine (86.4µg/mg creatinine) was ~2.4-times greater than in healthy subjects (36.0µg/mg creatinine±18.2 SD) but ~2.4-times lower than in severe subjects (208.1µg/mg creatinine±55.0 SD).CONCLUSIONS:
The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation. Furthermore, the clinical presentation of patients with an attenuated form of MPS III confirms the need for a specific evaluation of urinary GAGs in all young and adult subjects showing a not well-defined or not particularly severe mental retardation, along with an early MPS diagnosis. Such investigation should also be associated with a more specific characterization of heparan sulfate.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Mucopolisacaridosis III
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Heparitina Sulfato
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Discapacidad Intelectual
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Clin Biochem
Año:
2013
Tipo del documento:
Article
País de afiliación:
Italia