Activation of fatty acid oxidation in the Silver-Russell syndrome and the Brachmann-de Lange syndrome.
We describe a similar metabolic pattern of hyperketosis, ketonaciduria, and C6-C12 dicarboxylic aciduria in a patient with the Silver-Russell syndrome and a patient with the Brachmann-de Lange syndrome. Fasting blood levels of beta-hydroxybutyrate and acetoacetate were significantly higher than in age-matched controls, and both patients showed massive urinary excretion of beta-hydroxybutyrate, acetoacetate and C6-C12 dicarboxylic acids.
Willems
P J
PJ
Department of Pediatrics, University of Groningen, The Netherlands.
Dijkstra
I
I
Schierbeek
H H
HH
Berger
R
R
Smit
G P
GP
D020155:3-Hydroxybutyric Acid; D000090:Acetoacetates / Q000378:metabolism; D003998:Dicarboxylic Acids / Q000652:urine; D005147:Facial Bones / Q000002:abnormalities; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D007223:Infant; D008297:Male; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
D000090:Acetoacetates; D003998:Dicarboxylic Acids; D005227:Fatty Acids; D006885:Hydroxybutyrates; C016635:acetoacetic acid; D020155:3-Hydroxybutyric Acid