Mevalonic aciduria

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

Fever

Elevated body temperature due to failed thermoregulation.


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PMID (PMCID)
17596604
 MALE
Allogeneic bone marrow transplantation in mevalonic aciduria.
Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debre M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A.
N Engl J Med. 2007;356(26):2700-3.
Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay, ataxia, and dysmorphic features.