Chennai: Lysosomal Storage Disorders (LSDs), a group of 50 rare inherited metabolic diseases leading to building up of toxic substances in the body, can cause seizures, blindness and other disabilities.
However, early diagnosis can prevent such conditions and enzyme replacement therapies can help cure them, say medicos.
The role of timely and accurate diagnosis of Lysosomal Storage Disorders (LSDs) is very crucial as the symptoms of LSDs and their severity depend upon the type of enzyme missing from the body.
“Predominantly diagnosed in children, LSDs can be treated if diagnosed early by identifying high-risk group during pregnancy. An analysis of family history, the age of the parents while conception and medical history makes for a critical part of LSDs diagnosis,” said genetics specialist Dr Sujatha Jagadeesh.
“One patient might have seizures and the other blindness or/and deafness, and yet both of them may be suffering from some form of LSD. Since the symptoms are not only different for individual patients but often mimic of other diseases, LSDs are either miss or late diagnosed, thereby worsening the patients’ condition,” added Dr Sujatha.
The biochemical and genetic diagnosis in specialized laboratories needs to be pefrormed during pregnancy to prevent lysosomal deficiency. Therefore, popularizing screening programmes for rare diseases can be fruitful.
“The diagnostic centres along with genetic specialists can be roped in to provide facilities and infrastructure for the diagnosis of LSDs during pregnancy. As far as the treatment for LSDs is concerned, if diagnosed timely, there are options like Enzyme Replacement Therapy (ERT) for some of the LSDs like MPS, Gaucher, Pompe, Fabry, etc. that have shown a positive impact on the life of patients and helped them live almost normal and productive lives,” said Dr Indrani Suresh, healthcare expert.
