Abstract
Today, all of the states in the United States and many countries screen their newborns for biotinidase deficiency. Biotinidase deficiency meets the major criteria for including a disorder into screening programs. However, rarely do we learn the actual story behind the discovery of a disorder where the underlying etiology was elusive or about the events leading to a disorder’s incorporation into a newborn screening program. This is the story of the role that serendipity played in the story of biotinidase deficiency and the newborn screening of the disorder.
Highlights
There was some overlap in the time of presentation of symptoms, the symptoms of those with early-onset multiple carboxylase deficiency (MCD) were subsequently shown to be due to a deficiency of the enzyme, biotin holocarboxylase synthetase, the enzyme required for covalently attaching biotin to the various apocarboxylases converting them to active holoenzymes [4,5]
While studying aspects of biotin metabolism and its relationship to propionic acidemia, I discovered the monograph of Dr Jaakko Pispa of the Department of Medical Chemistry of the University of Helsinki entitled “Animal Biotinidase” [6]
It soon became time to write my grant renewal to continue my studies of propionic acidemia and aspects of biotin metabolism
Summary
Soon after we had published our results describing that biotinidase deficiency was the cause of late-onset MCD, I received a telephone call from Dr Mark We received a new sample and found that instead of finding biotinidase deficiency again, the child had activity that was considerably above normal. It was this fifth serendipitous event that taught us that any new serum sample that comes into the laboratory must be tested with and without substrate to determine if there is a substance in the serum that could cause the development in the absence of enzyme.
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