Biotin-responsive multiple carboxylase deficiency is an inherited disorder of organic acid metabolism in man in which there are deficiencies of propionyl-coenzyme A (CoA), 3-methylcrotonyl-CoA, and pyruvate carboxylases that can be corrected with large doses of biotin. It has been proposed that the basic defect in patients with the early infantile form of the disease is in holocarboxylase synthetase, the enzyme that covalently attaches biotin to the inactive apocarboxylases to form active holocarboxylases. We have developed an assay for holocarboxylase synthetase in extracts of human fibroblasts using as substrate apopropionyl-CoA carboxylase partially purified from livers of biotin-deficient rats. Fibroblasts from the initial patient with the infantile form of biotin-responsive multiple carboxylase deficiency were shown to have abnormal holocarboxylase synthetase activity with a maximum velocity about 30-40% of normal, a Km for ATP of 0.3 mM similar to the normal Km of 0.2 mM, and a highly elevated Km for biotin of 126 ng/ml, about 60 times the normal Km of 2 ng/ml. These results show that the primary defect in this patient is a mutation affecting holocarboxylase synthetase activity, and thus a genetic defect of the metabolism of biotin.
B J Burri, L Sweetman, W L Nyhan
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Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review
Gaschignard M, Domenach L, Lamireau D, Guibet C, Roche S, Richard E, Redonnet-Vernhet I, Mesli S, Lebreton L |
Frontiers in Genetics | 2024 |
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings
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Pediatric Dermatology | 2021 |
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MA Salih |
2020 | |
High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders
B Wolf |
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LP Thuy, J Belmont, WL Nyhan |
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Journal of Inherited Metabolic Disease | 1985 |
A bioassay for determining biotinidase activity and for discriminating biocytin from biotin using holocarboxylase synthetase-deficient cultured fibroblasts
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Journal of Inherited Metabolic Disease | 1985 |
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Journal of Inherited Metabolic Disease | 1985 |
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Acta Paediatrica | 1985 |
Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample
T Suormala, H Wick, JP Bonjour, ER Baumgartner |
Clinica Chimica Acta | 1985 |
Biotinidase deficiency: Factors responsible for the increased biotin requirement
ER Baumgartner, T Suormala, H Wick, J Bausch, JP Bonjour |
Journal of Inherited Metabolic Disease | 1985 |
Biotin Deficiency Complicating Parenteral Alimentation: Diagnosis, Metabolic Repercussions, and Treatment
DM Mock, DL Baswell, H Baker, RT Holman, L Sweetman |
Annals of the New York Academy of Sciences | 1985 |
Clinical Problems Relating to Biotin
WL Nyhan |
Annals of the New York Academy of Sciences | 1985 |
Biotin in Human Nutrition
JP Bonjour |
Annals of the New York Academy of Sciences | 1985 |
Enzyme Studies in Combined Carboxylase Deficiency
K Bartlett, HK Ghneim, JH Stirk, HJ Wastell, HS Sherratt, JV Leonard |
Annals of the New York Academy of Sciences | 1985 |
Biotinidase Deficiency
B Wolf, GS Heard, JU McVOY, RE Crier |
Annals of the New York Academy of Sciences | 1985 |
Selected genodermatoses in infants and children
IJ Frieden, NB Esterly |
Clinics in Dermatology | 1985 |
Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
DM Mock, DL Baswell, H Baker, RT Holman, L Sweetman |
The Journal of Pediatrics | 1985 |
Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency
T Suormala, H Wick, , ER Baumgartner |
European Journal of Pediatrics | 1985 |
Inherited Disorders of Vitamins and Cofactors
GM Addison, K Bartlett, RA Harkness, RJ Pollitt |
1985 | |
Enzyme studies in biotin-responsive disorders
K Bartlett, HK Ghneim, , H Wastell |
Journal of Inherited Metabolic Disease | 1985 |
Biotinidase deficiency: Factors responsible for the increased biotin requirement
ER Baumgartner, T Suormala, H Wick, J Bausch, |
Journal of Inherited Metabolic Disease | 1985 |
Lipid metabolism in biotin-responsive multiple carboxylase deficiency
M del C. Gonzalez-Rios, SC Whitney, ML Williams, PM Elias, S Packman |
Journal of Inherited Metabolic Disease | 1985 |
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: Contribution to the prenatal diagnosis of inherited disorders of leucine catabolism
C Jakobs, L Sweetman, WL Nyhan, S Packman |
Journal of Inherited Metabolic Disease | 1984 |
Pyruvate carboxylase deficiency
K Bartlett, HK Ghneim, JH Stirk, G Dale, KG Alberti |
Journal of Inherited Metabolic Disease | 1984 |
Biotin-related abnormalities in human metabolism
WL Nyhan |
BioEssays | 1984 |
The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency
BH Robinson, J Oei, WG Sherwood, D Applegarth, L Wong, J Haworth, P Goodyer, R Casey, LA Zaleski |
The American Journal of Human Genetics | 1984 |
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency
S Packman, N Caswell, MC Gonzalez-Rios, T Kadlecek, H Cann, D Rassin, C McKay |
The American Journal of Human Genetics | 1984 |
Prenatal diagnosis of the organic acidurias
L Sweetman |
Journal of Inherited Metabolic Disease | 1984 |
Organic Acidurias
GM Addison, RA Chalmers, P Divry, RA Harkness, RJ Pollitt |
1984 | |
Organic Acidurias
GM Addison, RA Chalmers, P Divry, RA Harkness, RJ Pollitt |
1984 | |
Pyruvate carboxylase deficiency
K Bartlett, HK Ghneim, , G Dale, KG Alberti |
Journal of Inherited Metabolic Disease | 1984 |
Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity
F Kalousek, MD Orsulak, LR Rosenberg |
The American Journal of Human Genetics | 1983 |
Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups
AM Wah, KF Lam, F Tsui, B Robinson, ME Saunders, RA Gravel |
The American Journal of Human Genetics | 1983 |
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Clinica Chimica Acta | 1983 |
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
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Clinica Chimica Acta | 1983 |
Regulation and intracellular localization of the biotin holocarboxylase synthetase of 3T3-L1 cells
HI Chang, ND Cohen |
Archives of Biochemistry and Biophysics | 1983 |
Phenotypic variation in biotinidase deficiency
B Wolf, RE Grier, RJ Allen, SI Goodman, CL Kien, WD Parker, DM Howell, DL Hurst |
The Journal of Pediatrics | 1983 |
Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
ML Williams, S Packman, MJ Cowan |
Journal of the American Academy of Dermatology | 1983 |
Impaired Intestinal Absorption of Biotin in Juvenile Multiple Carboxylase Deficiency
JG Thoene, R Lemons, H Baker |
New England Journal of Medicine | 1983 |
BIOTINIDASE DEFICIENCY IN JUVENILE MULTIPLE CARBOXYLASE DEFICIENCY
J Thoene, B Wolf |
Lancet | 1983 |
[3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency
BH Robinson, J Oei, M Saunders, R Gravel |
The Journal of biological chemistry | 1983 |
The biotin-dependent carboxylase deficiencies
B Wolf, GL Feldman |
The American Journal of Human Genetics | 1982 |
Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency
ME Saunders, WG Sherwood, M Duthie, L Surh, RA Gravel |
The American Journal of Human Genetics | 1982 |
PRENATAL TREATMENT OF BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
S Packman, MS Golbus, MJ Cowan, NM Caswell, L Sweetman, BJ Burri, WL Nyhan, H Baker |
The Lancet | 1982 |
Clinical Genetics
GB Wilson |
Clinical Genetics | 1982 |
Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency
S Packman, NM Caswell, H Baker |
Biochemical Genetics | 1982 |