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Medics 'often fail to see symptoms'.

GPs and paediatricians need to be educated about a group of rare, progressive diseases, according to a consultant at a leading Midland hospital.

Dr Anupam Chakrapani, head of the Inherited Metabolic Disorders Unit at Birmingham Children's Hospital, said medics often fail to see symptoms as being indicative of an associated condition.

There are about 40 different lysosomal storage disorders, like multiple sulfatase deficiency suffered by Pavan Tailor.

LSDs are caused by defects in the enzymes responsible for recycling waste from the cells.

But because they are so rare and have non-specific symptoms, medics are often unaware of LSDs as a possible diagnosis.

Dr Chakrapani said: "There is no cure-all for these conditions, but the key to successful treatment is early diagnosis.

"Some of them are life-limiting but the majority are chronic diseases that can be managed with the right treatment, such as enzyme replacement therapy.

"The general paediatric, as well as GP, community should be aware of these conditions and be prepared to carry out investigations in order to give a full diagnosis."

As recently as a decade ago, when drugs first became available, many of these conditions were fatal. But when treatment was offered to patients, they would have to travel to one of three UK hospitals for their therapy.

However patients will no longer have to face weekly trips to Cambridge, London or Manchester for their medication, as the Children's Hospital has been granted licence to prescribe the expensive, but effective, drugs.

About 1,400 patients attend the metabolic unit, of which 120 have an LSD.

Only ten per cent of these children will be suitable for treatment with current drugs.

The hospital's unit treats one in four of UK population with these rare conditions.

In addition to the patients already seen at the unit, Dr Chakrapani believes there is a "lost tribe" of up to 100 Midland children with an LSD not receiving specialist care.


Dr Anupam Chakrapani
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Publication:The Birmingham Post (England)
Date:Jul 11, 2007
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