Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency

2021 ◽  
Author(s):  
Takehiko Inui ◽  
Yoichi Wada ◽  
Moriei Shibuya ◽  
Natsuko Arai-Ichinoi ◽  
Yukimune Okubo ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Diet Therapy ◽  
Neonatal Onset ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency

2019 ◽  
Vol 35 (2) ◽  
pp. 137-145 ◽  
Author(s):  
Emily Shelkowitz ◽  
Can Ficicioglu ◽  
Nicholas Stence ◽  
Johan Van Hove ◽  
Austin Larson
Keyword(s):  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Literature Review ◽  
Ketogenic Diet ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Response To Treatment ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Objectives: To report 2 additional cases of pyruvate dehydrogenase complex deficiency with reversible deep gray matter lesions following initiation of ketogenic diet and to perform a literature review of serial imaging in patients with pyruvate dehydrogenase complex. Methods: Clinical data on 3 previously unpublished cases of patients with pyruvate dehydrogenase complex deficiency and with serial magnetic resonance imagings (MRIs) before and after institution of ketogenic diet were reported. A systematic literature review was performed to search for published cases of patients with confirmed pyruvate dehydrogenase complex deficiency who underwent serial MRIs. Results: The 3 subjects in this series demonstrated clinical improvement on ketogenic diet. Two subjects showed reversal of some brain lesions on repeat MRI following initiation of ketogenic diet. Of the 21 published cases with serial MRIs, 13 patients underwent some form of treatment, and of this smaller subset 4 patients had repeat MRIs that showed definitive improvement. In both our described cases and those published in the literature, improvement occurred in lesions in the basal ganglia. Conclusions: In patients with pyruvate dehydrogenase complex deficiency, basal ganglia lesions on MRI are reversible with treatment in some cases and could serve as a biomarker for measuring response to treatment.

scholarly journals Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

2017 ◽  
Vol 40 (2) ◽  
pp. 237-245 ◽  
Author(s):  
Kalliopi Sofou ◽  
Maria Dahlin ◽  
Tove Hallböök ◽  
Marie Lindefeldt ◽  
Gerd Viggedal ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Long Term Outcomes ◽  
Complex Deficiency ◽  
Short And Long Term ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency

2018 ◽  
Vol 60 (11) ◽  
pp. 1041-1042 ◽  
Author(s):  
Rie Chida ◽  
Masaru Shimura ◽  
Shigeo Nishimata ◽  
Yasuyo Kashiwagi ◽  
Hisashi Kawashima
Keyword(s):  
Ketogenic Diet ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

Biochimie ◽  
2021 ◽  
Author(s):  
Hana Pavlu-Pereira ◽  
Diana Lousa ◽  
Catarina S. Tomé ◽  
Cristina Florindo ◽  
Maria João Silva ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Functional Impact ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Identification of a Gene for the Pyruvate Dehydrogenase E1? Subunit with a Deletion of Four Nucleotides from a Patient with Pyruvate Dehydrogenase Complex Deficiency

1989 ◽  
Vol 573 (1 Alpha-Keto Ac) ◽  
pp. 458-460 ◽  
Author(s):  
HITOSHI ENDO ◽  
KIYOSHI HASEGAWA ◽  
KUNIAKI NARISAWA ◽  
KEIYA TADA ◽  
YASUO KAGAWA ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

scholarly journals A Mutation in the E1α Subunit of Pyruvate Dehydrogenase Associated with Variable Expression of Pyruvate Dehydrogenase Complex Deficiency

1992 ◽  
Vol 32 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Isaiah D Wexler ◽  
Sullia G Hemalatha ◽  
Te-Cheung Liu ◽  
Susan A Berry ◽  
Douglas S Kerr ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Variable Expression ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

1996 ◽  
Vol 7 (1) ◽  
pp. 46-51 ◽  
Author(s):  
Willy Lissens ◽  
Linda De Meirleir ◽  
Sara Seneca ◽  
Chantal Benelli ◽  
Cécile Marsac ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Pyruvate Dehydrogenase ◽  
Pyruvate Dehydrogenase Complex ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex

Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency

Mitochondrion ◽  
2006 ◽  
Vol 6 (3) ◽  
pp. 126-135 ◽  
Author(s):  
Kristen Berendzen ◽  
Douglas W. Theriaque ◽  
Jonathan Shuster ◽  
Peter W. Stacpoole
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Therapeutic Potential ◽  
Pyruvate Dehydrogenase Complex ◽  
Complex Deficiency ◽  
Pyruvate Dehydrogenase Complex Deficiency ◽  
Dehydrogenase Complex
Sign in / Sign up

Export Citation Format

Share Document