Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 391-394

  Gibson, K M ^a,b,f   Hoffmann, G F ^c   Sweetman, L ^d   Buckingham, B ^e  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c PHILIPPS UNIVERSITY MARBURG   (Germany)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^e CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^f BAYLOR RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEVALONIC ACID; PHOSPHOTRANSFERASE;

ACIDURIA; BLOOD LEVEL; CONFERENCE PAPER; CONTROLLED STUDY; DISORDERS OF CHOLESTEROL METABOLISM; DIZYGOTIC TWINS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; INFANT; MALE; URINE LEVEL;

CELLS, CULTURED; FEMALE; HUMANS; LYMPHOCYTES; MEVALONIC ACID; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PREGNANCY; TWINS, DIZYGOTIC;

EID: 0030857946     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005394315300     Document Type: Conference Paper

References (6)

1. Chambliss KL, Slaughter CA, Schreiner R, Hoffmann GF, Gibson KM (1996) Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J Biol Chem 271: 17330-17334.
2. Gibson KM, Hoffmann G, Nyhan WL, et al (1988) Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr 148: 250-252.
3. Gibson KM, Lohr JL, Broock RL, et al (1989) Mevalonate kinase in lysates of cultured human fibroblasts and lymphoblasts: kinetic properties, assay conditions, carrier detection and measurement of residual activity in a patient with mevalonic aciduria. Enzyme 41: 47-55.
4. Hoffmann GF, Sweetman L, Bremer HJ, et al (1991) Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection. Clin Chim Acta 198: 209-228.
5. Hoffmann GF, Charpentier C, Mayatepek E, et al (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91: 915-921.
6. Sweetman L (1991) Organic acid analysis. In Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 143-176.