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| Is that your final answer? | |
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| Bob
has a mystery disease and it’s your job to solve the mystery. That’s the premise of a new online tutorial designed to teach medical students and practitioners how to diagnose CPT II deficiency. The author, Marcel Blanchaer, M.D., is careful to parcel out the clues and save the denouement until the final moment. But along the way he will ask you some pointed questions--such as what lab test you would recommend for Bob’s reddish urine and which enzyme resides on the outer mitochondrial membrane. Never mind if you get the answer wrong, you can try again and again. This tutorial will patiently prod you in the right direction. Best of all, it is based on a reported case, complete with patient history, family history, pedigree and mutation analysis. The tutorial also includes assorted mini-lessons on muscle metabolism, mitochondrial function and patterns of inheritance. Flexible, yet organized, you can learn as much or as little as you like from “Bob.” Dr. Blanchaer has authored another tutorial based on an unusual case of L-CPT I deficiency. “Nancy” presents the story of an Inuit mother who develops acute fatty liver of pregnancy (AFLP) while carrying her first child. This illness triggers a chain of events that unfold in the tutorial, screen by screen, through two pregnancies and births. Dr. Blanchaer’s love for biochemistry is especially apparent in this tutorial. Using diagrams, he explains the complex sequences of splits and bonds in beta oxidation. Users can literally cycle through the citric acid cycle with the click of a mouse. The author also tackles the biochemical origins of the severe hypoglycemia that plagues many infants with defects in fat metabolism. As always, he begins with a glossary and ends with a summary. Dr. Blanchaer is Professor Emeritus of Biochemistry and Molecular Biology at the University of Manitoba. His tutorials have been used in medical schools around the world. Free download versions are also available for use at institutions or for more leisurely learning on your personal computer. |
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Related links: Carnitine
palmitoyltransferase I deficiency in neonate identified by dried
blood spot free carnitine and acylcarnitine profile
(L-CPT I deficiency)Diagnostic Approach to Disorders of Fat Oxidation Information for clinicians by Charles Roe, M.D. Mind over Matter: The Realities of a Common Muscle Disease CPT deficiency article by Georgirene Vladutiu, Ph.D. Neuroscience Online Exams and Tutorials Links to online tutorials covering basic and clinical neuroscience topics. 
For more cases like Bob's, visit Found
missing. For more about infants with CPT
deficiency, visit Family
matters. |
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The
enzymes SGOT and LD each occur in two forms ("isoenzymes"):
heart and liver. Skeletal muscle has a mixture of these
forms. Therefore, unless special tests are done to
distinguish between these forms, finding elevated serum
levels of either SGOT or LD does not necessarily indicate
liver damage. In view of Bob's story, they most likely came
from his damaged muscle cells.
