Mevalonate Kinase Deficiency in a Child with Cerebellar Ataxia, Hypotonia and Mevalonic Aciduria

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1988 Dec 1

PMID 2850914

Citations 7

Authors

K M Gibson

G Hoffmann

W L Nyhan

L Sweetman

R Berger

R Le Coultre

G P Smit

Affiliations

Soon will be listed here.

Abstract

Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%-52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.

Citing Articles

Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS).

Messer L, Alsaleh G, Georgel P, Carapito R, Waterham H, Dali-Youcef N RMD Open. 2016; 2(1):e000196.

PMID: 26977311 PMC: 4785531. DOI: 10.1136/rmdopen-2015-000196.

Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.

Hager E, Tse H, Piganelli J, Gupta M, Baetscher M, Tse T J Inherit Metab Dis. 2007; 30(6):888-95.

PMID: 18008182 DOI: 10.1007/s10545-007-0776-7.

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.

Rolland M, Cuisset L, Le Bozec J, Guffon N, Vianey-Saban C J Inherit Metab Dis. 2006; 28(6):1141-2.

PMID: 16435209 DOI: 10.1007/s10545-005-0147-1.

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.

Gibson K, Hoffmann G, Sweetman L, Buckingham B J Inherit Metab Dis. 1997; 20(3):391-4.

PMID: 9266363 DOI: 10.1023/a:1005394315300.

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

Ibel H, Endres W, Hadorn H, Deufel T, Paetzke I, Duran M Eur J Pediatr. 1993; 152(8):665-70.

PMID: 7691603 DOI: 10.1007/BF01955244.

References

Hoffmann G, Gibson K, BRANDT I, Bader P, Wappner R, Sweetman L . Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986; 314(25):1610-4. DOI: 10.1056/NEJM198606193142504. View

Berger R, Smit G, Schierbeek H, Bijsterveld K, Le Coultre R . Mevalonic aciduria: an inborn error of cholesterol biosynthesis?. Clin Chim Acta. 1985; 152(1-2):219-22. DOI: 10.1016/0009-8981(85)90195-0. View

Sly W, Sekhon G, Kennett R, Bodmer W, Bodmer J . Permanent lymphoid lines from genetically marked lymphocytes: success with lymphocytes recovered from frozen storage. Tissue Antigens. 1976; 7(3):165-72. DOI: 10.1111/j.1399-0039.1976.tb01047.x. View

Weyler W, Sweetman L, Maggio D, Nyhan W . Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta. 1977; 76(3):321-8. DOI: 10.1016/0009-8981(77)90158-9. View