Rare Diseases Symptoms Automatic Extraction

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

[pyruvate dehydrogenase deficiency]

A male child with X-linked pyruvate dehydrogenase deficiency presented with severe neonatal lactic acidosis. Poor compliance following initiation of the ketogenic diet justified modification to a less restrictive form which improved compliance. One year after starting the modified diet, he remained clinically stable, showing developmental progress.

Diseases presenting "severe neonatal" symptom

  • familial hypocalciuric hypercalcemia
  • pyruvate dehydrogenase deficiency
  • zellweger syndrome

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