Table of Contents

HK J Paediatr (New Series)
Vol 9. No. 3, 2004

HK J Paediatr (New Series) 2004;9:272

Proceedings of Conference

A Clinical Approach to Lysosomal Storage Disorders

A Vellodi


HK J Paediatr (new series) 2004;9:253-276

Conference of Inborn Errors of Metabolism in Infants and Children 2002
Hong Kong Society of Neonatal Medicine, Hong Kong Society of Medical Genetics, Hong Kong Society of Clinical Chemistry, Hong Kong Society of Paediatric Endocrinology & Metabolism, Hong Kong Nutrition Association and Obstetrical and Gynaecological Society of Hong Kong

The presentation of lysosomal storage disorders are quite variable. The common presentations include hepatosplenomegaly, neurological deterioration, coarse facies, dysostosis, cardiomyopathy, angiokeratoma, etc. Less well appreciated presentations include non-immune hydrops fetalis and psychiatric symptoms meriting elaboration in the following lists:

Non-immune hydrops:

Mucopolysaccharidosis (MPS) VII, Sialidosis, Niemann-Pick A, Niemann-Pick C, Galactosialidosis, MPS I, Wolman's disease, MPS IV, Salla and sialic acid storage disease, Farber's disease.

 

Psychiatric symptoms:
MPS III, Adult onset MLD

Currently, antenatal diagnosis is possible for lysosomal storage disorders and is an important aspect of management to be noted. Treatment modalities include conventional supportive therapy, enzyme replacement therapy and bone marrow transplant. Cervical spine fusion in MPS IV is an example of useful treatment that could be offered. Currently enzyme replacement therapy is available for Fabry disease and Gaucher disease. There are clinical trials going on for mucopolysaccharidosis I, Niemann-Pick B and glycogen storage disease II.

 
 

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