HIGHLIGHTS
- who: Zongzhi Jiang from the Sichuan University, China have published the research: Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma, in the Journal: (JOURNAL)
- what: The authors report a patient with PA screened by tandem mass spectrometry and urine gas chromatography-mass spectrometry.
SUMMARY
Propionic acidemia (PA) is an inherited autosomal recessive disease caused by the body accumulating propionic acid and its metabolites due to a deficiency in propionylCoA carboxylase (PCC) activity. The pathological characteristics of myopathy caused by PA are similar to those of metabolic . . .
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