Short Title Here (except that it can be longer than the body?)
The SCH PICU also ordered a plasma acylcarnitine profiles lab for the cover-up only. Instead of asking for the Newborn Screening (NBS) values, every baby’s first lab, which are acylcarnitine profiles ready for interpretation from the Washington State Department of Health (DOH), they collected a specimen NOT during the critical event, but when his glucose had been CORRECTED for more than four hours.
In the previously mentioned textbook by Jerry J Zimmerman, MD, PhD, he wrote, “Diagnostic metabolic laboratory studies are most likely to provide definitive information if performed on clinical samples obtained at initial presentation and before any therapy is initiated. Failure to obtain the necessary specimens at this time may miss an important diagnostic window of opportunity.” The SCH PICU delayed the specimen timing to be four hours after the treatment to hide the diagnosis.
3. SCH withheld the urine organic acids and acylcarnitine profile reports from the patient’s family and Best Doctors –a review service- for 8 months (PDF), telling the parents that both results were normal.
Although the glucose had been corrected, the C16, still elevated, pointed to the patient’s primary fatty acid oxidation disorder (FAOD): either CPT-II or CACT deficiency.