Late-onset holocarboxylase synthetase-deficiency: Pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

European Journal of Pediatrics

Volumn 157, Issue 7, 1998, Pages 570-575

  Suormala, T ^a   Fowler, B ^a   Jakobs, C ^b   Duran, M ^c   Lehnert, W ^d   Raab, K ^e   Wick, H ^a   Baumgartner, E R ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY OF FREIBURG   (Germany)

^e Cnopfsche Kinderklinik   (Germany)

Author keywords

Biotin therapy; Holocarboxylase synthetase deficiency; Prenatal diagnosis

Indexed keywords

BIOTIN; CARBOXYLASE; ISOVALERIC ACID;

AMNION FLUID ANALYSIS; ARTICLE; CASE REPORT; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FEMALE; HUMAN; INFANT; KETOACIDOSIS; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; UNCONSCIOUSNESS; VOMITING;

BIOTIN; CARBON-NITROGEN LIGASES; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0031835532     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050881     Document Type: Article

References (19)

1. Baker H, Frank O, Thomson AD, Langer A, Munves ED, De Angelis B, Kaminetzky A (1975) Vitamin profiles of 174 mothers and newborns at parturition. Am J Clin Nutr 28: 56-65
2. Bartlett K, Ghneim HK, Stirk H-J, Wastell H (1985) Enzyme studies in biotin-responsive disorders. J Inherit Metab Dis 8 [Suppl 1]:46-52
3. Burn BJ, Sweetman L, Nyhan WL (1985) Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet 37:326-337
4. Duran M, Bruinvis L, Ketting D, Klerk JBC de, Wadman SK (1988) Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 34:548-551
5. Duran M, Baumgartner ER, Suormala TM, Bruinvis L, Dorland L, Smeitink JAM, Poll-The BT (1993) Cerebrospinal fluid organic acids in biotinidase deficiency. J Inherit Metab Dis 16:513-516
6. Frigg M, Brubacher G (1976) Biotin deficiency in chicks fed a wheat-based diet. Internat J Vit Nutr Res 46:314-321
7. 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
8. Leighton F, Poole B, Beaufay H (1968) The large-scale separation of peroxisomes, mitochondria and lysosomes from the liver of rats injected with Triton WR-1339. J Cell Biol 37:482-513
9. Livne M, Gibson KM, Amir N, Eshel G, Elpeleg ON (1994) Holocarboxylase synthetase deficiency: A treatable metabolic disorder masquerading as cerebral palsy. J Child Neurol 9:170-172
10. Packman S, Cowan MJ, Golbus MS, Caswell NM, Sweetman L, Burri BJ, Nyhan WL, Baker H (1982) Prenatal treatment of biotin-responsive multiple carboxylase deficiency. Lancet 11:1435-1439
11. Packman S, Caswell N, Gonzalez-Rios MC, Kadlecek T, Cann H, Rassin D, McKay C (1984) Acetyl CoA carboxylase in cultured fibroblasts: Differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Am J Hum Genet 36:80-92
12. Roth KS, Yang W, Allan L, Saunders M, Gravel RA, Dakshinamurti K. (1982) Prenatal administration of hiotin in biotin responsive multiple carboxylase deficiency. Pediatr Res 16:126-129
13. Sherwood WG, Saunders M, Robinson BH, Brewster T, Gravel RA (1982) Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylases synthetase deficiency of early and late onset. J Pediatr 101:546-550
14. Suormala T, Wick H, Bonjour J-P, Baumgartner ER (1985) Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. Clin Chim Acta 145:151-162
15. Suormala TM, Baumgartner ER, Bausch J, Holick W, Wick H (1988) Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC). Clin Chim Acta 177:253-270
16. Suormala T, Ramaekers VTH, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER (1995) Biotinidase Km-variants: detection and detailed biochemical investigations. J Inherit Metab Dis 18:689-700
17. Suormala T, Fowler B, Duran M, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner ER (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
18. Wolf B (1995) Disorders of biotin metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 3151-3177
19. Wolf B, Hsia YE, Sweetman L, Feldman G, Boychuk RB, Bart RD, Crowell DH, Di Mauro RM, Nyhan WL (1981) Multiple carboxylase deficiency: Clinical and biochemical improvement following neonatal biotin treatment. Pediatrics 68:113-118