Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

Prenatal Diagnosis

Volumn 19, Issue 2, 1999, Pages 108-112

  Thuy, Le Phuc ^a,c   Belmont, John ^b   Nyhan, William L ^a  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Biotin treatment; Holocarboxylase synthetase; Prenatal diagnosis

Indexed keywords

BIOTIN; CARBOXYLASE; METHYLCROTONOYL COENZYME A CARBOXYLASE; PROPIONYL COENZYME A CARBOXYLASE; PYRUVATE CARBOXYLASE;

ADULT; AMNION CELL; ARTICLE; CASE REPORT; CULTURE MEDIUM; DISORDERS OF CARBOHYDRATE METABOLISM; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FETUS; HUMAN; MALE; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TREATMENT OUTCOME;

EID: 0033060116     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199902)19:2<108::AID-PD476>3.0.CO;2-E     Document Type: Article

References (24)

1. Aoki, Y., Suzuki, Y., Sakamoto, O., Li, X., Takahashi, K., Ohtake, A., Sakuta, R., Ohura, T., Miyabayashi, S., Narisawa, K. (1995). Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. Biochim. Biophys. Acta. 1272, 168.
2. m for biotin was not elevated in a patient with HCS deficiency. Pediatr. Res., 42, 849.
3. Buchanan, P.D., Kahler, S.G., Sweetman, L., Nyhan, W.L. (1980). Pitfalls in the prenatal diagnosis of propionic acidemia. Clin. Genet., 18, 177-183.
4. Burri, B.J., Sweetman, L., Nyhan, W.L. (1981). Mutant holocarboxylase synthetase. Evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J. Clin. Invest., 68, 1491-1495.
5. Burri, B.J., Sweetman, L., Nyhan, W.L. (1985). Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am. J. Hum. Genet., 37, 326-337.
6. Chang, H.I., Cohen, N.D. (1983). Regulation and intracellular localization of the biotin holocarboxylase synthetase of 3T3-L1 cells. Arch. Biochem. Biophys., 255, 237-247.
7. Dupuis, L., Leon Del Rio, A., Leclerc, D., Campeau, E., Sweetman, L., Saudubray, J.M., Herman, G., Gibson, K.M., Gravel, R.A. (1996). Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum. Molec. Genet., 5, 1011-1016.
8. Gompertz, D., Draffan, G.H., Watts, J.L., Hull, D. (1971). Biotin-responsive 3-methylcrotonylglycinuria, Lancet, 2, 22.
9. Hoffmann, G.F., Sweetman, L., Bremer, H.J., Hunnemen, D.H., Hyanek, J., Kozic, V., Lehnert, W., Nyhan, W.L., Speidel. I., Trefz. F.K., Gibson, K.M. (1991). Facts and artefacts in mevalonic aciduria: development of a stable isotope GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection, Clin. Chim. Acta. 198, 202-228.
10. Jakobs, C., Sweetman, L., Nyhan, W.L., Packman, S. (1984). Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine metabolism. J. Inher. Metab. Dis., 7, 15-20.
11. Leon Del Rio, A., Leclerc, D., Gravel, R.A. (1995). Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotinauxotroph of E. coli. Proc. Natl. Acad. Sci. USA. 92, 4626-4630.
12. Morita, J., Thuy, L.P., Sweetman, L. (1998). Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency. Biochem. Molec. Med., 64, 250-255.
13. Naylor, G., Sweetman, L., Nyhan, W.L., Hornbeck, C., Griffiths. J., Morch, L., Brandavge, S. (1980). Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. Clin. Chim. Acta. 107, 175-183.
14. Nyhan, W.L., Sakati, N.A. (1987). Multiple carboxylase deficiency: holocarboxylase synthetase. In: Diagnostic Recognition of Genetic Disease. Philadelphia. PA: Lea and Febiger. 50-57.
15. Packman, S., Golbus, M.S., Cowan, M.J., Caswell, N.M., Sweetman, L., Burri, B.J., Nyhan, W.L., Baker, H. (1982). Prenatal treatment of biotin-responsive multiple carboxylase deficiency. Lancet. ii, 1435-1438.
16. Paul, P., Duttagupta, P., Agarwal, H. (1973). Antifertility effect of biotin and its amelioration by estrogen in the female rat, Curr. Sci. (India). 42, 613-615.
17. Roth, K.S., Yang, W., Allan, L., Saunders, M., Gravel, R.A., Dakshinamurti, D. (1982). Prenatal administration of biotin in biotin-responsive multiple carboxylase deficiency, Pediatr. Res., 16, 126-129.
18. Saunders, M., Sweetman, L., Robinson, B., Roth, K., Cohn, R., Gravel, R.A. (1979). Biotin-responsive organic aciduria. Multiple carboxylase defects and complementation studies with propionic acidemia in cultured fibroblasts. J. Clin. Invest., 64, 1695-1702.
19. Suzuki, Y., Aoki, Y., Ishida, Y., Chiba, Y., Iwamatsu, A., Kishino, T., Niikawa, N., Matsubara, Y., Narisawa, K. (1994). Isolation and characterization of mutations in the holocarboxylase synthetase cDNA, Nature Genet., 8, 122.
20. Suzuki, A., Aoki, Y., Sakamoto, O., Li, X., Miyabayashi, S., Kazuta, Y., Kondo, H., Narizawa, K. (1996). Enzymatic diagnosis of holocarboxylase synthetase deficiency using apocarboxyl carrier protein as substrate, Clin. Chim. Acta. 251, 41-52.
21. Thuy, L.P., Sweetman, L., Nyhan, W.L. (1991). A new immunochemical assay for biotin. Clin. Chim. Acta. 202, 191-198.
22. Weyler, W., Sweetman, L., Maggio, D.C., Nyhan, W.L. (1977). Deficiency of propionyl CoA carboxylase in a patient with methylcrotonylglycinuria. Clin. Chim. Acta. 76, 321-328.
23. Wolf, B.. Hsia, E.. Sweetman. L., Feldman, G., Boychuk, R.B., Bart, R.D., Crowell, D.H., Mauro, R.M., Nyhan, W.L. (1981). Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment, J. Pediatr., 68, 113.
24. Wolf, B., Grier, R.E., Allen, R.J., Goodman, S.I., Kien, C.L., Parker, W.D., Howell, D.M., Hurst, D.L. (1983). Phenotypic variation in biotinidase deficiency. J. Pediatr., 103, 233.