Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

Autism

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).


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(per page)
PMID (PMCID)
18555174
MALE Infant
Danon disease: an unusual presentation of autism.
Burusnukul P, de Los Reyes EC, Yinger J, Boue DR.
Pediatr Neurol. 2008;39(1):52-4.
To our knowledge, there are no previous clinical reports of autism in children with Danon disease.