Most of us don’t think about how our bodies absorb the proteins, fats, and carbohydrates that give us the energy to live our lives. Children born with inborn errors of metabolism, however, are in danger of suffering from mental retardation, developmental delays, or other severe problems including the possibility of early death.

“Within hours of his birth, it was clear he had problems,” recalls a mother who later learned her son was born with a fatal metabolic disease. First, he could not eat, then he could not breathe. Soon he went into convulsions. Sixteen months later, he passed away. This child was one of three children in the same family to have the devastating inability to process nutrients.

In some children, a metabolic disease causes brain matter to disappear at an extremely accelerated pace (see black area in MRI on right).

Examining the DNA of this particular family’s children led Professor Orly Elpeleg, Director of Hadassah’s Center of Excellence for Pediatric Metabolic Diseases, to identify the “culprit gene” responsible for the children’s illness. Along with identifying a brand-new gene, Prof. Elpeleg and her team also discovered that the defective gene mutated in a way never seen before. This means that a new mechanism of causing disease has been identified. Prof. Elpeleg, internationally renowned in this field, made her discovery using a DNA sequencer to locate a specific DNA stretch that is different in sick children. Prof. Elpeleg compares this search to looking for one phone number in 200 phone books with 1,000 numbers on each page.

Until the research brings a cure for metabolic diseases, Hadassah treats these children with an individualized nutritional regimen. Some children, like Benny, when given vitamins and supplements, miraculously improve and thrive. Others, like Benny’s sister, are not so fortunate and the disease takes their lives.

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