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

Authors
 Jeong A Kim  ;  Rita Yu  ;  Wonha Jo  ;  Youn Hee Ko  ;  Jin-Sung Lee  ;  Heung DongKim  ;  Hoon-Chul Kang 
Citation
 NEUROLOGY ASIA, Vol.19(3) : 327-329, 2014 
Journal Title
NEUROLOGY ASIA
ISSN
 1823-6138 
Issue Date
2014
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.
Full Text
http://web.b.ebscohost.com/ehost/detail/detail?vid=5&sid=b46907d7-5534-4991-a090-fdc11a6b88fd%40sessionmgr113&hid=123&bdata=JnNpdGU9ZWhvc3QtbGl2ZQ%3d%3d#db=a9h&AN=98380992
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Ko, Youn Hee(고윤희)
Kim, Jeong A(김정아)
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Yu, Rita(유리타미영)
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99769
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