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1
Mevalonate kinase deficiency (MKD) is an autosomal recessive disorder caused by mutations in the MVK gene, leading to severe mevalonic aciduria (MA).
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2
A 7-month-old Chinese male infant presented with neonatal-onset MA, exhibiting symptoms like growth retardation, diarrhea, fever, and hepatosplenomegaly.
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3
Whole-exome sequencing identified two novel compound heterozygous MVK variants: c.64G > A (p.Val22Met) and c.1063G > C (p.Ala355Pro), absent in global databases.
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4
In silico analyses confirmed that the identified MVK variants cause significant structural perturbations and functional impairment.
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5
The patient achieved sustained remission with canakinumab, marking the first report of the c.1063G > C variant causing severe MA in a Chinese population.
