Newborns screened for rare diseases

Tags: children

A baby girl has been saved by a scheme examining newborns for rare illnesses.

Only days after the girl was born, blood tests pointed to the existence of Maple Syrup Urine Disease (MSUD), a metabolic condition.

Untreated, MSUD can result in serious brain damage and even death. Fortunately, Habul Khatoon is now a happy and active five-month-old baby.

Her illness was detected thanks to a UK pilot programme to screen 430,000 newborn babies. Doctors at Sheffield Children's NHS Foundation Trust are leading and co-ordinating the project.

The pilot screening programme started in July 2012. Its objective is to detect any babies with five metabolic conditions that can reduce life expectancy. They are so rare they happen in fewer than one in 100,000 births.

The screening accuracy results in the diseases being detected early, which means treatment can begin far earlier than would normally be the case.

Baby Habul's birth in July 2012 coincided with the start of the screening programme. Her condition makes it impossible for her body to break down proteins into amino acids.

When she was born, she could not cry normally and soon went into a comma. Once her condition was detected, doctors treated it by cleaning her blood with dialysis. She was awake within 48 hours.

Her treatment continues with a particular diet. Her diet for life will have to be a low-protein one that avoids high-protein foods such as meat, fish and eggs.

Copyright Press Association 2013

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