New blood test detects baby birth deficiencies

Press, 15 July 1985, Page 36

New blood test detects baby birth deficiencies

NZPA-AP Boston A new and inexpensive blood test can spot an inherited vitamin deficiency in newborns so that the disorder can be treated before it caused mental retardation or death, doctors believe. Dr Barry Wolf, who headed a team of researchers at the Medical College of Virginia, said the disorder was called biotinase deficiency. Victims lacked an enzyme that allowed their bodies to recycle the vitamin biotin. Symptoms could include retardation, seizures and hearing loss and it could lead to coma and death. The disorder could be easily treated with vitamin supplements, but since symptoms were often mild, permanent brain damage may occur before the disorder was diagnosed, he said.

The Virginia doctors discovered the underlying cause of the disease and developed a screening test that could reveal the condition in newborn babies. They estimated that it occurred in about one of every 40,000 children.

A report on their work appears in the latest issue of the “New England Journal of Medicine. The doctors used the screening test on 81,243 babies in Virginia last year. They found the disorder in two of them. Dr Wolf said both had mild symptoms that otherwise would have escaped notice. The two children were given biotin capsules and appeared to be developing normally. Dr Wolf said several states had expressed interest in trying the test and it would also be used experimentally in Japan, Australia and New Zealand.