Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Feb;24(1):e13604.
doi: 10.1111/petr.13604. Epub 2019 Oct 25.

Mevalonic aciduria: Does stem cell transplant fully cure disease?

Ann Marie Szymanski  1 , Blachy Dávila Saldaña  2 , Carlos R Ferreira  3 , Brett Loechelt  2 , Lawrence Jung  1
Affiliations
Case Reports

Mevalonic aciduria: Does stem cell transplant fully cure disease?

Ann Marie Szymanski et al. Pediatr Transplant. 2020 Feb.

Abstract

MA is a rare, autosomal recessive disorder characterized by episodes of inflammation and periodic fevers. In its most severe form, it can result in facial dysmorphism, growth inhibition, ataxia, liver dysfunction, intellectual disability, and at times can be fatal. A number of case reports exist stating that SCT is curative in these patients. We present the case of a patient diagnosed with MA at birth, who underwent SCT at the age of 14 months with intent to cure. She achieved complete engraftment and urine mevalonate became undetectable. However, 18 months following transplant, she developed frequent episodes of fevers, rashes, arthritis, and a rising urinary mevalonate. She was subsequently diagnosed with relapse. She now requires treatment with steroids and canakinumab to manage her disease. This case is the first report of disease relapse following transplant for MA. It runs contrary to prior reports that SCT is fully curative of MA and suggests that transplant may instead provide a means of decreasing disease severity without entirely eradicating the condition.

Keywords: autoinflammatory syndromes; hyperimmunoglobulin d syndrome; mevalonic acuduria; pediatric; rare diseases; stem cell transplantation.

PubMed Disclaimer

References

REFERENCES

    1. Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin Chim Acta. 1985;152(1-2):219-222.
    1. Hoffmann GF, Charpentier C, Mayatepek E, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993;91(5):915-921.
    1. van der Burgh R, Ter Haar NM, Boes ML, Frenkel J. Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol. 2013;147(3):197-206.
    1. Drenth JP, Cuisset L, Grateau G, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International hyper-IgD study group. Nat Genet. 1999;22(2):178-181.
    1. Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22(2):175-177.

Publication types

LinkOut - more resources