1.A modified Atkin’s diet for an infant with pyruvate dehydrogenase complex deficiency confirmed by PDHA1 gene mutation
Jeong A Kim ; Rita Yu ; Wonha Jo ; Youn Hee Ko ; Jin-Sung Lee ; Heung Dong Kim ; Hoon-Chul Kang
Neurology Asia 2014;19(3):327-329
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.
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