Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder
characterized by life-long recurring episodes of fever and inflammation, often without clear …

Beta-oxidation (β-oxidation) is an important metabolic process involving multiple steps by
which fatty acid molecules are broken down to produce energy. The very long-chain fatty …

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are
disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized …

Background Mevalonate kinase (MVK) plays a role in cholesterol and non-sterol isoprenoid
biosynthesis and its deficiency-related diseases are caused by bi-allelic pathogenic …

The activation of the pyrin inflammasome represents a highly intriguing mechanism
employed by the innate immune system to effectively counteract pathogenic agents. Despite …

Non‐syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous
group of disorders characterized by progressive degeneration of the rod and cone …

Background In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in two
subsequent enzyme steps by mevalonate kinase (MVK) and phosphomevalonate kinase …

Hyper-IgD syndrome and hidradenitis suppurativa: An intriguing link Hyper-IgD syndrome
and hidradenitis suppurativa: An intriguing link J Eur Acad Dermatol Venereol. 2024 May;38(5):e444-e446 …

Abstract “Autoinflammatory syndromes” is the broad name given to a group of heritable
conditions caused by defects in genes that regulate the innate immune system. Initially …

DISCUSSION Porokeratosis represents a heterogeneous group of relatively uncommon,
hereditary, or acquired skin disorders of unknown etiology characterized by abnormal …