Diseases of overload in free acid sialic

The diseases of overload in free acid sialic , disease of Salted, the intermediate form of the disease of Salted and the infantile form of the disease of overload in free acid sialic are neurodégénératives diseases by overload lysosomale in sialic Acide.

The intermediate form of the diseases of overload in free acid sialic is the disease of Salted: the child is normal with the birth without anomaly with the examination, then appears a deterioration slowly progressive with appearance of a delay of the psychomotor Développement, anomalies of the muscular tone involving a Spasticité, a Athétose and Convulsion S.

The most severe form of the diseases of overload in free acid sialic is the infantile form . The signs are: delay of psychomotor Development, coarse face, hepatomegaly, cardiomégalie. The death usually occurs before ten years.

Sources

Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 269920 * Robert Kleta, William has Gahl, Free Sialic Acid Storage Disorders In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.

Associations

Maladie of Salted Association Vaincre the Diseases Lysosomales

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