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Metabolic inflexibility and unusual catabolism in Leigh-like syndrome due to m.10191T>C.

Clinical nutrition ESPEN - 1 Aug 2023

Newstead Shaundra M, Finsterer Josef

Abstract excerpt

BACKGROUND AND AIMS: Hypercatabolism is a well-known feature of mitochondrial diseases but some patients may present with hypometabolism, as the following case. METHODS: Case report using standard investigation methods. RESULTS: The patient is a 32 years-old female with a Leigh-like syndrome due to the mtDNA variant m.10191 T > C in MT-ND3. Leigh-like syndrome is characterized by symmetric basal ganglia or...

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PMID: 37344065
DOI: 10.1016/j.clnesp.2023.05.007

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