A 9-year old female was referred to a university medical center because of easy fatigability and poor exercise tolerance
Posted: Mon Jan 24, 2022 9:17 am
A 9-year old female was referred to a university medical center
because of easy fatigability and poor exercise tolerance.
Careful neurologic examination revealed some muscle weakness in her
extremities. Microscopic examination of muscle biopsies
indicated vacuoles containing lipids. The muscle specimens
contained elevated amounts of triacylglycerol’s, but only one-sixth
as much carnitine as biopsy specimens obtained from other patients
who did not any primary.
How might the
carnitine deficiency account for the triacylglycerol accumulation
in the muscles?
because of easy fatigability and poor exercise tolerance.
Careful neurologic examination revealed some muscle weakness in her
extremities. Microscopic examination of muscle biopsies
indicated vacuoles containing lipids. The muscle specimens
contained elevated amounts of triacylglycerol’s, but only one-sixth
as much carnitine as biopsy specimens obtained from other patients
who did not any primary.
How might the
carnitine deficiency account for the triacylglycerol accumulation
in the muscles?