Mevalonic acidemia: First case of Japan

Japanese Journal of Human Genetics

Volumn 42, Issue 3, 1997, Pages 441-444

  Oicamoto, Nobuhiko ^a   Nakayama, Masahiro ^a   Narahara, Chie ^a   Klm, Han Suk ^b   Fujloka, Masashi ^c   Imada, Isao ^d   Arai, Tatsuya ^a   Tooa, Soichiro ^c  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

^c PL Hospital   (Japan)

^d Teijin Bio Laboratories Inc   (Japan)

Author keywords

Cholesterol biosynthesis; GC MS; Mevalonate kinase deficiency; Mevalonic acid; Mevalonic acidemia

Indexed keywords

CHOLESTEROL; ISOPRENE; MEVALONIC ACID; PHOSPHOTRANSFERASE;

ARTICLE; BLOOD LEVEL; CASE REPORT; CHOLESTEROL SYNTHESIS; DIARRHEA; ENZYME DEFICIENCY; FACE DYSMORPHIA; FAILURE TO THRIVE; HUMAN; HYPERTELORISM; INBORN ERROR OF METABOLISM; INTRAUTERINE GROWTH RETARDATION; JAPAN; LIVER DYSFUNCTION; LOW SET EAR; MALE; MICROGNATHIA; NEWBORN;

FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; JAPAN; MALE; METABOLISM, INBORN ERRORS; MEVALONIC ACID; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 0030668979     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. de Klerk JB, Duran M, Dorland L, Brouwers HA, Bruinvis L, Retting D (1988): A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anemia, thrombocytopenia and leukocytosis. J Inherited Metab Dis 11 Suppl 2: 233-236
2. 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 Pediatr 148: 250-252
3. 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 Dis 18: 197-200
4. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnen W, Sartor K, Trefz FK, Rating D, Bremer HJ, Nyhan WL (1993): Clinical and biochemical phenotype in 11 patients with mevaionic aciduria. Pediatrics 91: 915-921
5. 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 Res 34: 129-133
6. Kozich V, Gibson KM, Zeman J, Nemecek J, Hoffman GF, Pehal F, Hyänek J, Grosmanovâ A, Verner P (1991): Mevalonic aciduria. J Inherited Metab Dis 14: 265-266
7. 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 Neurol 9: 243-246
8. Nakura K, Imada I, Sato K, Sakota K, Kawakami M (1992): An improved assay for mevalonic acid in blood. Igaku & Yakugaku 27: 939-945 (in Japanese)
9. 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 Chem 267: 13229-13238
10. Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, Sälen G (1994): Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107-113