ISSN:
1432-1076
Keywords:
Epileptic encephalopathy
;
2-Methyl-3-hydroxybutyric acid
;
Methylmalonic acid
;
2-Ethylhydracrylic acid
;
Protein responsive
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract An 8-month-old infant presented because of poor development followed by the acute onset of cortical blindness and a severe seizure disorder at the time of changing from breast to formula feeding. Metabolic investigations revealed an increased urinary excretion of 2-methyl-3-hydroxybutyric, methylmalonic and 2-ethylhydracrylic acids. The concentration of these compounds in urine was augmented by oral protein (5g/kg per day) and isoleucine loading. A low protein diet (1.5g/kg per day) produced a dramatic response with complete cessation of seizures and a marked improvement in vision and general development. After many months of low protein diet, the biochemical abnormalities were no longer detectable, even after protein loading. Extensive investigations have failed to reveal an intrinsic enzyme defect which would account for these clinical and biochemical findings. A toxic effect of a bacterial metabolite of isoleucine is proposed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00444939
