[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].
Regarding a case of beta-ketothiolase deficiency revealed by ketoacidosis with hyperglycinemia, the authors show the way to diagnose and to treat this disease. Ketoacidosis without hyperglycemia or lactacidemia suggested this diagnosis. Gas chromatography-mass-spectrography revealed unusual urinary excretion of metabolic products of isoleucine. The enzymological study of fibroblasts confirmed the diagnosis. The treatment of acute episodes consisted of acidosis control and exclusive glucides intake before diagnosis. Afterwards, a controlled proditic diet and L-carnitine must be given and fasting must be avoided.
Elleau
C
C
Service néonatal, hôpital Pellegrin, Bordeaux, France.
Parrot-Roulaud
F
F
Perel
Y
Y
Divry
P
P
Rolland
M O
MO
Zabot
M T
MT
Middleton
R
R
Guillard
J M
JM
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency* / Q000378:metabolism; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000150:complications*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000628:therapy
D000102:Acetyl-CoA C-Acyltransferase; D005998:Glycine
Déficit en bêta cétothiolase: un cas d'acidocétose avec hyperglycinémie.