Summary
Mevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable diarrhea, liver dysfunctions and death at three months of age. Dysmorphic features including triangular face, protrusion of forehead, hypertelorism, low set ears and micrognathism were noted. High mevalonic acid level was found by GC/MS.
Similar content being viewed by others
Article PDF
References
de Klerk JB, Duran M, Dorland L, Brouwers HA, Bruinvis L, Ketting D (1988): A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anemia, thrombocytopenia and leukocytosis. J Inherited Metab Dis11 Suppl 2: 233–236
Gibson KM, Hoffmann G, Nyhan WL, Sweetman L, Berger R, le Coultre R, Smit GP (1988): Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr148: 250–252
Goebel-Schreiner B, Schreiner R, Hoffmann GF, Gibson KM (1995): Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency. J Inherited Metab Dis18: 197–200
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, Trefz FK, Rating D, Bremer HJ, Nyhan WL (1993): Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics91: 915–921
Hübner C, Hoffmann GF, Charpentier C, Gibson KM, Finckh B, Puhl H, Lehr H-A, Kohlschütter A (1993): Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency. Pediatr Res34: 129–133
Kozich V, Gibson KM, Zeman J, Nemecek J, Hoffman GF, Pehal F, Hyánek J, Grosmanová A, Verner P (1991): Mevalonic aciduria. J Inherited Metab Dis14: 265–266
Mancini J, Philip N, Chabrol B, Divry P, Rolland M-O, Pinsard N (1993): Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy. Pediatr Neurol9: 243–246
Nakura K, Imada I, Sato K, Sakota K, Kawakami M (1992): An improved assay for mevalonic acid in blood. Igaku & Yakugaku27: 939–945 (in Japanese)
Schafer BL, Bishop RW, Kratunis VJ, Kalinowski SS, Mosley ST, Gibson KM, Tanaka RD (1992): Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. J Biol Chem267: 13229–13238
Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Salen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med330: 107–113
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Okamoto, N., Nakayama, M., Narahara, C. et al. Mevalonic acidemia: First case of Japan. Jap J Human Genet 42, 441–444 (1997). https://doi.org/10.1007/BF02766946
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02766946