Short Title Here (except that it can be longer than the body?)
The enzyme activity reports based on NBS confirmed CPT-II deficiency and nationwide lab frauds. It also explained how the patient landed in SCH after a fever and why he survived.
Visit to Universit Hospitals of Cleveland Medical Center
Hinted by Benjamin L Shneider, MD -"You will never get a diagnosis in US.", the parents changed the patient’s PCP and took him to University Hospitals on Dec. 03, 2014. They told Jirair Bedoyan, MD the complete medical history but changed the location to China, and then presented him the patient’s NBS values. He immediately pointed out it was CPT-II deficiency, not CPT-I, and needed to be differentiated with CACT deficiency. (ACMG Algorithm PDF)
Dr. Bedoyan ordered both CACT and CPT(s) labs
The CACT activities are normal using a T-75 test vs T-75 reference (PDF). CPT-II deficiency was denied by using T-75 test vs T-25 reference, a factor of 3x in size. After using the CPT-I to CPT-II ratio, which is not affected by the flask sizes, the increased CPT-I becomes normal and the normal CPT-II becomes deficient. We explain more details below:
1. In L#06, the CPT-I sensitive forward reaction are 3.5, 3.6, vs 3.0 (new reference), indicating normal CPT-I.
2. In the “Control” Column (red box), L#02 and L#06 show very close values, 3.7 vs 3.6, indicating that CPT-II is not effective at all. This severe infantile form explains how the patient landed in SCH ED after a fever.
3. In L#02, the values shows apparent deficiency (4.5 vs 8.7) with some residue (not so low as 3.7). It is adult form CPT-II deficiency. It explains why he survived.
The differences are called thermolability (sensitivity to temperature). It is typically measured at 37 degrees C and 41 degrees C respectively.
This is the most useful lab report, but it is still a fraud.
Click to read the SCH transplant team’s plan and the GI’s last notes:
SCH underestimated his enzyme activities at normal temperature.
CPT-II (aka CPT2) deficiency is the most common muscular metabolic condition. There are 3 phenotypes (PDF):
1. Lethal neonatal form: is almost invariably death regardless of intervention. (Activities, <3%)
2. Severe infantile multi-systemic form: majority occurs less than 1 year of age, triggered by illness, infection, or fasting. Representative with acute liver failure and hypoketotic hypoglycemia. (Activities, 3-10%)
3. Adult form: least severe form: normal life avoid fasting , excessive exercise; otherwise, acute kidney failure may appear. (Activities, 10-33%)
Just like Dr. Balistreri, Dr. Bedoyan spent more time on the patient than scheduled. He and his student, Dr. William Hannah spent their lunch time helping the patient with the skin biopsy. They are great doctors. After discovering the mistake, the parents asked CIDEM about the T-25 reference.Charles Hoppel, MD claimed that the T-25 was a typo. It should be T-75, but the interpretation stays the same. (PDF – CPT-II and replies.)