Deficiencies of carnitine, carnitine acyltransferases, or carnitine/acylcarnitin
ID: 132395 • Letter: D
Question
Deficiencies of carnitine, carnitine acyltransferases, or carnitine/acylcarnitine translocase affect the metabolism of long-chain fatty acids. Many of the symptoms are similar, and include hypoketotic hypoglycemia (low ketone levels and low blood sugar with fasting), and damage to the liver, heart, or muscles due to fatty acid buildup in those tissues. Symptom severity varies with the form of the deficiency The following abbreviations are used: carnitine acyltransferase (carnitine palmitoyltransferase), CPT and carnitine/acylcanitine translocase, CACT. Identify each symptom or effect as a deficiency of CPT I, CPT II, CACT, or both CPT I and CACT. One bin will remain empty CPT I deficiency CPT Il deficiency CACT deficiency CPT I or CACT deficiency acyl carnitine not carnitine not convertedacyl carnitine not converted to camitine in matrixin cytoplasm to acyl carnitine transported across inner mitochondrial membraneExplanation / Answer
Correct Options are:
CPT I Deficiency: Carnitine not converted to acyl Carnitine in Cytoplasm.
CPT II Deficiency: Long Chain Fatty Acids remain attached to Carnitine in Matrix.
CACT Deficiency: Acyl Carnitine not transported across inner mitochondrial membrane.
CPT I or CACT Deficiency: Remain empty
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