'She is poisoned by her own food'

By Jane Elliott
Health reporter, BBC News

Lara manages a normal life

Lara Williams-Lourenco's body cannot tolerate protein.

She has a rare metabolic condition called methylmalonic acidemia (MMA) and has to be fed a low protein diet, or her body becomes blocked up with toxins and poisoned.

MMA, caused by a defective enzyme, is one of over 1,300 metabolic illnesses affecting parts of the body. The best known of these is cystic fibrosis.

Lara showed symptoms shortly after birth when she slipped into a coma.

Kidney risk

Luckily the doctors were able to quickly diagnose Lara's condition and she was put onto a low-protein diet and given vitamin supplements and a detoxifier to neutralise the high levels of acid in her body.

Her mother, Julie, explained that Lara's organs, particularly her kidneys, are at risk and she has to be constantly monitored.

She likes bizarre things like a particular brand of tomato soup, spaghetti hoops and dark chocolate mints Julie Williams-Lourenco

"If she eats anything that contains protein instead of her body using it for growth and repair there is a blockage in the pathway of her metabolism and it becomes a backlog of dangerous toxins.

"She can't really have protein. So no meat, fish or dairy.

"She can eat fruit and vegetables and she can have sugar based things, but one of the unexplained traits of her condition is that the children with it do not seem to want to eat so she has a tube for feeding with a low-protein formula because she does still need some protein to survive and grow."

Avoiding proteins

But Julie, from West Sussex, said despite getting over 90% of her food through her tube, Lara, now eight, does still have favourite foods that she likes to eat by mouth.

"She likes bizarre things like a particular brand of tomato soup, spaghetti hoops and dark chocolate mints.

"If she did eat normally, the acid and proteins would start poisoning her and damaging her organs

"Basically she would be poisoned by her own food."

Lara has to avoid proteins

To help understand and treat metabolic conditions like Lara's Great Ormond Street (GOSH) has recently set a database to record all chemical changes in metabolic patients.

The data is expected to reveal similar patterns in patients' chemistries and why they are susceptible to life-threatening episodes.

Lara's metabolic consultant at GOSH, Professor Stephanie Grunewald, said that she has remarkable resilience to the high levels of acid assaulting her body.

"There are a whole lot of different symptoms with this condition," she said.

"Long term problems mean the high levels of acid can affect developmental delay, cause muscle weakness and damage the kidneys.

"It is the kidneys that suffer most and will result sooner or later in kidney failure."

'Doing well'

Professor Grunewald said it was impossible to give a life expectancy for a patient with MMA, which was first discovered in 1969.

"At first they all died early. The life expectancy now is much better but is still guarded depending on complications they have.

"The longer the patients live, the more problems we encounter as they get older."

But she stressed that Lara is one of the most resilient patients she treats and is responding well to treatments.

Julie agreed that Lara is responding well, enjoying a mainstream school and the normal activities of girls her age such as parties and Brownies.

But she said the toxins had caused her some developmental delays and she is more vulnerable to infection so they always needed to be vigilant.

"School bugs can be quite dangerous. A tummy bug means going to hospital because she needs intravenous fluids until it is passed

"We spent quite a lot of time in hospital although she is having quite a well spell at the moment

"GOSH is keeping her alive."