Lysosomal disorders

As a group lysosomal storage disorders (LSDs) are more prevalent than phenylketonuria. Most are recessively inherited and a combination of good clinical history, thorough physical examination and the judicious use of X-rays can provide a clue to the diagnosis which is usually confirmed with a combination of urine and blood tests. Disorders that affect the brain and bone remain difficult to treat but advances in enzyme replacement therapy have improved the outlook for many affected patients. New approaches to therapy are in development to try and impact the CNS disease.Prenatal diagnosis is available for all these conditions and affected families need to be referred to genetic services for counselling.