First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

Prenatal Diagnosis

Volumn 25, Issue 12, 2005, Pages 1117-1119

  Malvagia, Sabrina ^a   Morrone, Amelia ^a   Pasquini, Elisabetta ^a   Funghini, Silvia ^a   La Marca, Giancarlo ^a   Zammarchi, Enrico ^a   Donati, Maria Alice ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Holocarboxylase synthetase; Molecular diagnosis; Prenatal diagnosis

Indexed keywords

AMINO ACID; DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CADAVER; CASE REPORT; CHORION VILLUS SAMPLING; DIAGNOSTIC PROCEDURE; DISORDERS OF CARBOHYDRATE METABOLISM; DNA ISOLATION; EXON; FAMILY; FETUS; FETUS DEVELOPMENT; GENE MUTATION; GENE SEQUENCE; GESTATION PERIOD; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MOLECULAR BIOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN FAMILY; RISK FACTOR;

CARBON-NITROGEN LIGASES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PREGNANCY; PRENATAL CARE; PRENATAL DIAGNOSIS;

EID: 29544446369     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1291     Document Type: Article

References (20)

1. Dupuis L, Leon-Del-Rio A, Leclerc D, et al. 1996. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum Mol Genet 5: 1011-1016.
2. Hwu WL, Suzuki Y, Yang X, et al. 2000. Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. J Formos Med Assoc 99: 174-177.
3. Jakobs C, Sweetman L, Nyhan WL, Packman S. 1984. Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. J Inherit Metab Dis 7: 15-20.
4. Mardach R, Zempleni J, Wolf B, et al. 2002. Biotin dependency due to a defect in biotin transport. J Clin Invest 109: 1617-1623.
5. Morrone A, Malvagia S, Donati MA, et al. 2002. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am J Med Genet 111: 10-18.
6. Narisawa K, Arai N, Igarashi Y, Satoh T, Tada K. 1982. Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies. J Inherit Metab Dis 5: 67-68.
7. Nyhan LW, Ozand PT. 1998. Multiple carboxylase deficiency/Holocarboxylase synthetase deficiency. In Atlas of Metabolic Diseases, Nyhan LW, Ozand PT (eds). Chapman & Hall Medical; London: 27-33.
8. Packman S, Cowan MJ, Golbus MS, et al. 1982. Prenatal treatment of biotin responsive multiple carboxylase deficiency. Lancet 1: 1435-1438.
9. Roth KS, Yang W, Allan L, Saunders M, Gravel RA, Dakshinamurti K. 1982. Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. Pediatr Res 16: 126-129.
10. Sakamoto O, Suzuki Y, Aoki Y, et al. 1998. Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. J Inherit Metab Dis 21: 873-874.
11. Suormala T, Fowler B, Duran M, et al. 1997. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res 41: 666-673.
12. Suormala T, Fowler B, Jakobs C, et al. 1998. Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Eur J Pediatr 157: 570-575.
13. Sweetman L, Surh L, Baker H, Peterson RM, Nyhan WL. 1981. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. Pediatrics 68: 553-558.
14. Tang NL, Hui J, Yong CK, et al. 2003. A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Clin Biochem 36: 145-149.
15. Thuy LP, Belmont J, Nyhan WL. 1999a. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency. Prenat Diagn 19: 108-112.
16. Thuy LP, Jurecki E, Nemzer L, Nyhan WL. 1999b. Prenatal diagnosis of holocarboxylase synthetase deficiency by assay of the enzyme in chorionic villus material followed by prenatal treatment. Clin Chim Acta 15(284): 59-68.
17. Tourna E, Suormala T, Baumgartner ER, Gerbaka B, Ogier de Baulny H, Loiselet J. 1999. Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. J Inherit Metab Dis 22: 115-122.
18. Wolf B. 2000. Disorders of biotin metabolism. In The Metabolic and Molecular Basis of Inherited Diseases, Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill Publishing; New York: 3935-3962.
19. Wolf B, Hsia YE, Sweetman L, et al. 1981. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics 68: 113-118.
20. Yang X, Aoki Y, Li X, et al. 2001. Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Hum Genet 109: 526-534.