-transparent.png){kind=logo}
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. 1992
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
INSERM U-12, Département de Pédiatrie Hôpital des Enfants-Malades, Paris, France.
We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and hyperlactatemia immediately after birth. Neurologic deterioration resulted in death at about 30 months of age. We propose low molar ratios of ketone bodies in plasma of neonates with congenital lactic acidosis as an indication of dysfunction of the tricarboxylic acid cycle.
Related Publications
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
December 1977,
Pediatric research,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
October 1981,
European journal of pediatrics,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
April 2002,
Nihon rinsho. Japanese journal of clinical medicine,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
January 2001,
Ryoikibetsu shokogun shirizu,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
January 1993,
Acta neuropathologica,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
October 1976,
Pediatrics,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
November 1979,
Minerva pediatrica,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
December 1975,
Pediatric research,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
March 1978,
Annales de medecine interne,
J P Bonnefont, and
D Chretien, and
P Rustin, and
B Robinson, and
A Vassault, and
J Aupetit, and
C Charpentier, and
D Rabier, and
J M Saudubray, and
A Munnich
December 1981,
Israel journal of medical sciences,
