Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

A 4 -year -old girl with pyruvate dehydrogenase deficiency , static encephalopathy , and seizure disorder treated with the ketogenic diet presented in severe diabetic ketoacidosis . Pyruvate dehydrogenase deficiency is a rare genetic defect of mitochondrial energy metabolism that leads to inefficient glucose use and lactic acidosis . The ketogenic diet provides the brain with an alternate fuel source , but its implementation opposes traditional diabetes management . Faced with this therapeutic dilemma , we aimed to maintain ketosis without compromising safety to optimize neurologic function and quality of life . This is the first report , to our knowledge , of a child simultaneously treated with the ketogenic diet and exogenous insulin . A 28 -month follow-up revealed excellent glycemic control , improved activity level , significant developmental achievements , and , perhaps most striking , catch-up linear growth from < 5 th percentile to the 50 th percentile . Her progress to date indicates that diabetes does not preclude use of the ketogenic diet .

Diseases
Validation

Diseases presenting "seizure" symptom

alexander disease

canavan disease

cohen syndrome

cowden syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

neonatal adrenoleukodystrophy

pendred syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

wolf-hirschhorn syndrome

This symptom has already been validated