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We report here the expression of biotin-responsive multiple carboxylase deficiency in cultured lymphoblasts of a patient whose fibroblasts belong to the bio genetic complementation group. Cultured lymphoblasts from the patient lost propionyl-CoA carboxylase (PCC) and beta-methylcrotonyl-CoA carboxylase (MCC) activities at a faster rate than normal cells when grown in biotin-deficient medium. Recovery of normal PCC and MCC activities, which was independent of protein synthesis, required a 2,500-fold higher biotin concentration than that required by normal lymphoblasts. Holocarboxylase synthetase activity was detected in cell-free extracts through the biotinylation of endogenous apo-PCC in the presence of ATP to form active holo-PCC. While the apo-PCC in extracts of normal biotin-starved lymphoblasts could be activated to 28% of maximal activity, extracts of patient lymphoblasts did not exhibit any ATP and biotin-dependent increase in PCC activity. A normal cell extract, cleared of apocarboxylases by immunoprecipitation, stimulated the PCC activity of a patient cell extract 20-fold. These results indicate that the apoenzyme in bio cells is normal and that the defect lies in the holocarboxylase synthetase.
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
December 1981,
The Journal of clinical investigation,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
March 1985,
American journal of human genetics,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
July 1996,
Human molecular genetics,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
May 1980,
The Journal of pediatrics,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
January 1998,
Ryoikibetsu shokogun shirizu,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
January 1985,
Annals of the New York Academy of Sciences,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
January 1988,
Journal of inherited metabolic disease,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
January 2000,
Ryoikibetsu shokogun shirizu,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
February 1982,
Biochemical genetics,
M E Saunders, and
W G Sherwood, and
M Duthie, and
L Surh, and
R A Gravel
June 2022,
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP,
