Difetto di mevalonato-chinasi: molte facce di una stessa malattia

Translated title of the contribution: Mevalonate kinase deficiency: Various aspects of the same disease

Carlo De Pieri, Antonella Insalaco, Andrea Taddio, Egidio Barbi, Loredana Lepore, Alberto Tommasini, Alessandro Ventura

Research output: Contribution to journalArticlepeer-review


Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends on the severity of the underlying enzymatic defect and on environmental factors. Due to its complex pathogenesis, involving both metabolic and immune functions, the disease shows different clinical pictures mimicking infectious, inflammatory, rheumatologic and neurological disorders. In these cases the correct diagnosis may be delayed and the patient may undergo useless investigation and treatment. In the present work five common patterns of clinical presentation of the disease that can lead to a late or wrong diagnosis are identified. Considering MKD as a novel "great mimicker" can foster awareness of this disorder among paediatricians and physicians in different medical specialties. Each case will enable to discuss possible diagnostic pitfalls and to propose practical hints to improve the diagnosis.

Translated title of the contributionMevalonate kinase deficiency: Various aspects of the same disease
Original languageItalian
Pages (from-to)501-506
Number of pages6
JournalMedico e Bambino
Issue number8
Publication statusPublished - Oct 2013

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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