Short Title Here (except that it can be longer than the body?)
Urine organic acids lab cancelled 6 days after order. Fearing specimen from critical event (his hypoglycemia) would reveal diagnosis, SCH Biochemical Genetics Laboratory used earlier specimen for same lab and phony explanations for abnormalities.
Labs Ordered After Second Hypoglycemia
On Apr. 09, 2013, a normally healthy, six-month old infant was referred to SCH for full body swelling with a fever. The patient was diagnosed with acute liver failure (ALF) the next morning without an etiology, then had critically low glucose at 5:00AM on Apr. 12th after fasting.
This was his second hypoglycemia in 3 days. The ED cancelled his glucose lab to hide the 1st hypoglycemia, resulting in acute liver failure (ALF). The overnight hypoglycemia (low glucose) indicated a metabolic condition: fatty acid oxidation disorder (FAOD). The SCH pediatric intensive care unit (PICU) ordered both urine organic acids and plasma acylcarnitine profiles to investigate the possibility of an FAOD, following the algorithm in the textbook edited by Jerry J Zimmerman (below), MD, PhD, who was the patient’s attending physician and the SCH PICU director.
Critical Lab Manipulated
2. The SCH biochemical lab made up an excuse to hide the diagnosis, which can be found using another urine organic acids lab (PDF) with a specimen collected eight hours before the critical event. The elevated dicarboxylic acids are indicative of FAOD. However, the lab report, signed by Rhona Jack, PhD, attributed the elevations to dietary MCT while the formula that the patient was given, NUTRAMIGEN, has no MCT (PDF).
This lab pointed to the patient’s secondary FAOD, ACAD9 deficiency, which was confirmed by another source. Both BCM and CCHMC refused to release the raw data.