A modified Atkin’s diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation

ABSTRACT

Pyruvate dehydrogenase complex deficiency (PDCD) is one of the most common neurodegenerative disorders associated with abnormal mitochondrial metabolism. Pyruvate dehydrogenase complex plays an important role in glucose metabolism and generation of energy from carbohydrates. Potential therapies for PDCD, include thiamine and ketogenic diet (KD), have been used with varying degrees of success. However, the KD is too restrictive, and its serious complications, particularly in early age of neonate or infancy are important drawbacks. Recently, the modified Atkins diet (MAD) for intractable epilepsy has provided balanced nutrients. The complications can be expected to be less frequent and well controlled. In this report, we describe an infant with PDCD confirmed by PDHA1 gene mutation through high-throughput sequencing technique of whole exome sequencing, who failed to continue the KD, but made good progress on MAD.