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Two patients presented in early childhood with: 1) alopecia, skin rashs, and candida dermatitis; 2) severe hypotonia, ataxia and motor retardation; 3) frequent episodes of ketoacidosis with hyperlactacidemia. Propionic and methylcrotonic aciduria only appeared on hyperprotidic diet. Mitochondrial biotin-dependent carboxylase activities were decreased in the liver and leukocytes, but were paradoxically normal in cultured fibroblasts whatever the biotin content of the medium. These disorders responded to biotin administration, pointing to multiple biotin-dependent carboxylase deficiencies (MCD). Our report stresses the polymorphism of MCD: major discrepancies concern predominance of carboxylase deficiency, expression of MCD in cultured fibroblasts, and possible involvement of a cytoplasmic biotin enzyme, acetyl CoA carboxylase (ACC). Finally, we suggest that MCD could be of two types: impaired biotin metabolism (absorption, transport, activation) might result in generalization MCD involving ACC. Defective holocarboxylase synthetase might lead to a pure mitochondrial MCD with fibroblastic deficiency and presumably skin integrity.
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
September 1982,
American journal of human genetics,
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
September 1979,
Nutrition reviews,
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
January 1985,
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A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
July 1979,
Lancet (London, England),
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
February 1977,
Klinische Wochenschrift,
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
November 1980,
Annals of neurology,
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
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C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
January 1998,
Ryoikibetsu shokogun shirizu,
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
January 1982,
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A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
January 2000,
Ryoikibetsu shokogun shirizu,
A Munnich, and
J M Saudubray, and
H Ogier, and
F X Coude, and
C Marsac, and
F Roccichioli, and
J C Labarthe, and
C Cazenave, and
J Laugier, and
C Charpentier, and
J Frézal
June 2022,
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP,
