The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations
Abstract
Inborn errors of the pyruvate dehydrogenase complex (PDC) are associated with lactic acidosis, neuroanatomic defects, developmental delay, and early death. PDC deficiency is a clinically heterogeneous disorder, with most mutations located in the coding region of the X-linked alpha subunit of the first catalytic component, pyruvate dehydrogenase (E1). Treatment of E1 deficiency hs included cofactor replacement, activation of PDC with dichloroacetate, and ketogenic diets. In this report, we describe the outcome of ketogenic diet treatment in seven boys with E1 deficiency. These patients were divided into two groups based on their mutations (R349H, three patients; and R234G, four patients, two sibling pairs). All seven patients received ketogenic diets with varying degrees of carbohydrate restriction. Clinical outcome was compared within each group and between siblings as related to the intensity and duration of dietary intervention. Subjects who either had the diet initiated earlier in life or who were placed on greater carbohydrate restriction had increased longevity and improved mental development. Based on the improved outcomes of patients with identical mutations, it appears that a nearly carbohydrate-free diet initiated shortly after birth may be useful in the treatment of E1 deficiency.
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Citations
Cites
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Cited by
Early‐ and Late‐onset Complications of the Ketogenic Diet for Intractable Epilepsy
Kang, H. C., Chung, D. E., Kim, D. W., & Kim, H. D. (2004) · Epilepsia · doi:10.1111/j.0013-9580.2004.10004.x · Cited by 390
Experience With the Ketogenic Diet in Infants
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Application of a ketogenic diet in children with autistic behavior: Pilot study
Evangeliou, A., Vlachonikolis, I., Mihailidou, H., Spilioti, M., Skarpalezou, A., Makaronas, N., Prokopiou, A., Christodoulou, P., Liapi-Adamidou, G., Helidonis, E., et al. (2003) · Journal of Child Neurology · doi:10.1177/08830738030180020501 · Cited by 279
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The ketogenic diet: Uses in epilepsy and other neurologic illnesses
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Metadata
- Authors
- Wexler, I. D., Hemalatha, S. G., McConnell, J., Buist, N. R. M., Dahl, H.-H. M., Berry, S. A., Cederbaum, S. D., Patel, M. S., & Kerr, D. S.
- Venue
- Neurology
- Published
- 1997-12
- Volume
- 49
- Issue
- 6
- Pages
- 1655-1661
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1990522512
- Cited by
- 275
- References
- 13
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- Wexler, I. D., Hemalatha, S. G., McConnell, J., Buist, N. R. M., Dahl, H.-H. M., Berry, S. A., Cederbaum, S. D., Patel, M. S., & Kerr, D. S. (1997). Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets: Studies in patients with identical mutations. Neurology. https://doi.org/10.1212/wnl.49.6.1655
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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