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Inherited Metabolic Disorder More Popular than Thought

This could call for routine screening for the disease in newborns

By Alexandra Lupu, Health News Editor

23rd of August 2006, 12:57 GMT

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A recent research informs that the inherited metabolic disorder medically termed as SCADD (short-chain acyl-coenzyme A dehydrogenase deficiency) is not that rare as previously thought. Scientists at the University of Amsterdam investigated 31 people who suffered from SCADD disease
and 8 relatives of the individuals who had the metabolic disorder.

Results showed that 1 in 50,000 babies are born with the SCADD inherited metabolic disorder. Their findings have been published in today's issue of the Journal of the American Medical Association.

The SCADD disease affects infants whose both parents carry the faulty gene and pass it on to the newborn baby. SCADD rare condition prevents the body from converting certain fats into energy, especially when the person does not eat (fats.) The particular fats which cannot be converted by the patients' bodies into energy are the short-chain fatty acids.

Symptoms of the disease consist in low blood sugar (hypoglycemia), failure to thrive and gain weight, lack of energy, poor muscle tone, developmental delay, epilepsy etc.

The results of the recently carried out study, which found the SCADD disorder to be more popular among newborn babies than previously estimated may call for routine screening for the metabolic inherited disorder in infants. However, medical opinions on this subject are divided and further investigations are needed before taking a decision.

"Most patients presented before the age of three years, with non-specific, generally uncomplicated, and often transient symptoms. Developmental delay, epilepsy, behavioral disturbances, and hypoglycemia were the most frequently reported symptoms." But "because SCADD does not meet major newborn screening criteria, it is not suited for inclusion in newborn screening programs at this time," the team which conducted the study concluded.

Susan E. Waisbren of Children's Hospital Boston pointed out: "Long-term studies comparing children identified by newborn screening with clinically identified children are needed. Only through comprehensive, long-term research will a rational, fair, and universal newborn screening policy become reality."
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