Mevalonate kinase deficiency masked by cytomegalovirus infection and obscure liver disease.

CONCLUSIONS: We confirmed the genetic diagnosis of mevalonic aciduria caused by MVK deficiency which had been masked by liver disease and the possible misdiagnosis of alpha-1-antitrypsin deficiency. PMID: 31430439 [PubMed - as supplied by publisher]
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research