Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency.
OBJECTIVE
We conducted a critical assessment of the use of diets high in fat and low in carbohydrate ("ketogenic") in the treatment of children with congenital lactic acidosis caused by mutations in the mitochondrial pyruvate dehydrogenase complex (PDC).


METHODS
The dietary composition of 18 subjects (11 from literature sources and 7 previously unpublished cases) was analyzed for nutrient composition. The biochemical and clinical responses to a long-term ketogenic regimen were also evaluated.


RESULTS
There was lack of uniformity in the proportion of fat calories administered and in the fatty acid composition of the diets. Ketogenic diets are also generally high in protein, compared with the recommended dietary allowance for age. Patient response to these regimens also varied considerably.


CONCLUSIONS
Although ketogenic diets have become the standard of care for the treatment of PDC deficiency, data to support their use are based on a few uncontrolled case reports in which dietary composition varied widely. Furthermore, there are several theoretical reasons for concern about the long-term safety of high-fat, low-carbohydrate diets. A controlled, prospective evaluation of the risks and benefits of these regimens for patients with PDC deficiency is required to establish rational nutritional guidelines.
Department of Medicine, Division of Endocrinology and Metabolism, University of Florida, College of Medicine, Gainesville, Florida, USA.
T A
TA
Weber
M R
MR
Antognetti
P W
PW
Stacpoole
D002648:Child; D002675:Child, Preschool; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D004041:Dietary Fats / Q000008:administration & dosage; D002149:Energy Intake; D005260:Female; D005526:Food, Formulated; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007657:Ketone Bodies; D008297:Male; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000178:diet therapy*; D012189:Retrospective Studies
D004040:Dietary Carbohydrates; D004041:Dietary Fats; D007657:Ketone Bodies