Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

[pyruvate dehydrogenase deficiency]

Inborn errors of the pyruvate dehydrogenase complex (PDC ) are associated with lactic acidosis , neuroanatomic defects , developmental delay , and early death . PDC deficiency is a clinically heterogeneous disorder , with most mutations located in the coding region of the X-linked alpha subunit of the first catalytic component , pyruvate dehydrogenase (E 1 ). Treatment of E 1 deficiency hs included cofactor replacement , activation of PDC with dichloroacetate , and ketogenic diets . In this report , we describe the outcome of ketogenic diet treatment in seven boys with E 1 deficiency . These patients were divided into two groups based on their mutations (R 349 H , three patients ; and R 234 G , four patients , two sibling pairs ). All seven patients received ketogenic diets with varying degrees of carbohydrate restriction . Clinical outcome was compared within each group and between siblings as related to the intensity and duration of dietary intervention . Subjects who either had the diet initiated earlier in life or who were placed on greater carbohydrate restriction had increased longevity and improved mental development . Based on the improved outcomes of patients with identical mutations , it appears that a nearly carbohydrate-free diet initiated shortly after birth may be useful in the treatment of E 1 deficiency .

Diseases
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Diseases presenting "clinically heterogeneous disorder" symptom

cutaneous mastocytosis

krabbe disease

pyruvate dehydrogenase deficiency

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