Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation

Journal of the Formosan Medical Association

Volumn 99, Issue 2, 2000, Pages 174-177

  Hwu, Wuh Liang ^a,c   Suzuki, Yoichi ^b   Yang, Xue ^b   Li, Xue ^b   Chou, Shi Ping ^a   Narisawa, Kuniaki ^b   Tsai, Wen Yu ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Biotin; Holocarboxylase synthetase; Multiple carboxylase deficiency; R508W mutation

Indexed keywords

BIOTINIDASE;

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CONSCIOUSNESS DISORDER; DISORDERS OF CARBOHYDRATE METABOLISM; DYSPNEA; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; MALE; PRESCHOOL CHILD; SEQUENCE ANALYSIS; VOMITING;

CARBON-NITROGEN LIGASES; CHILD, PRESCHOOL; HUMANS; MALE; MUTATION;

EID: 0034030910     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Wolf B: Disorders of biotin metabolism. In: Scrivcr CR, Beandet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill, 1995:3152-77.
2. Wolf B, Feldman GL: The biotin-dependent carboxylase deficiencies. Am J Hum Genet 1982;34:699-716.
3. Burri BJ, Sweetman L, Nyhan WL: Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest 1981;68:1491-5.
4. Wolf B, Secor McVoy J: A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals, Clin Chim Acta 1983; 135:275-81.
5. Michalski AJ, Berry GT, Segal S: Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chromic biotin therapy and a review of the literature. J Inherit Metab Dis 1989;12:312-6.
6. Suzuki Y, Aoki Y, Sakamoto O, el al: Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate, Clin Chim Acta 1996; 251:41-52.
7. Suzuki Y, Aoki Y, Ishida Y, et al: Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nature Genet 1994;8:122-8.
8. Wolf B: Worldwide survey of neonatal screening for biotinidase deficiency. J Inherit Metab Dis 1991;14: 923-7.
9. Dupuis L, Leon-Del-Rio A, Leclerc D, et al: Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum Mol Genet 1996;7:1011-6.
10. Dupuis L, Campeau E, Leclere D, et al: Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Mol Genel Metab 1999;66:80-90.
11. Aoki Y, Suzuki Y, Sakamoto O. et al: Molecular analysis of holocarboxylase synthetase deficiency: a mutation and a single base deletion are predominant in Japanese patients. Biochim Biophys Acta 1995;1272:168-74.
12. Sakamoto O, Suzuki Y, Aoki Y, et al: Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. J Inherit Metab Dis 1998;21:873-4.
13. Williams KM, Peden VH, Hillman RE: Isovaleric acidemia appearing as diabetic ketoacidosis. Am J Dis Child 1981; 135:1068-9.
14. Hou JW, Wang TR: Isovaleric acidemia: report of one case. Chung-Hua Min Kuo Hsiao Erh Ko i Hsueh Hui Tsa Chih 1990;31:262-5.
15. Zhang H, Osada K, Maebashi M, et al: A high biotin diet improves the impaired glucose tolerance of long-term spontaneously hyperglycemie rats with non-insulin-dependent diabetes mellitus. J Nutr Sci Vitaminol 1996;42: 517-26.
16. MacDonald MJ, Tang J, Polonsky KS: Low mitochondrial glycerol phosphate dehydrogenase and pyruvate carboxylase in pancreatic islets of Zucker diabetic fatty rats. Diabetes 1996;45:1626-30.
17. Suormala T, Fowler B, Jakobs C, et al: Late-ouset holocarboxylase synthetase-deficiency: pre- and postnatal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr 1998;157:570-5.