Lysosomal storage diseases

There are a few things that you need to know so that you can suspect such a diagnosis. There are some common features. By and large, the diseases are inherited as two carriers with autosomal recessive genes so the appearance of an affected child may be unexpected. The diseases seem commoner in the Ashkenazi Jewish population and many undergo screening so that couples can understand the risks. As you will know even with 2 carriers the chances of an affected child are 1 in 4.

Clinical

• Progressive neurological deterioration
• Hepatosplenomegaly
• Skeletal dysplasia
• Failure to thrive
• Coarse facial appearance
• Cherry red spot at macula
• Corneal clouding

Investigations

• Diagnosis is simply by enzyme assay of WBCs

Important Lysosomal storage diseases

Gaucher's

• Deficiency of β-glucosidase leads to a build-up of Glucocerebroside which may be treated with enzyme replacement, gene therapy and BMT.
• Raised acid phosphatase, angiotensin-converting enzyme (ACE) and immunoglobulin levels. Hepatosplenomegaly, Bruising, Bone disease

Tay Sachs

• Hexosaminidase A deficiency leads to build-up of GM2 ganglioside.
• Seizures, mental retardation, Cherry red macular spot