ArticleProceedings (Baylor University. Medical Center)2022
Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging.
Article in Proceedings (Baylor University. Medical Center), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.medRxiv : the preprint server for health sciences · 2024Article
- Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency.JCI insight · 2022Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
Pyruvate dehydrogenase complex deficiency is a rare and underdiagnosed disease. It can present with clinical manifestations as early as in utero. Both genetic and metabolic testing are available to determine the presence of the disease. Key to survival is early detection and diagnosis, with dietary treatment to prevent further neurological and structural damage to the brain. We present a newborn who presented with ultrasound brain abnormalities in utero that mimicked cytomegalovirus but was diagnosed with pyruvate dehydrogenase complex deficiency after genetic testing.
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