Mitochondrial pyruvate carrier deficiency

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Mitochondrial pyruvate carrier deficiency

A rare pyruvate metabolism disorder characterized by neonatal onset of a mitochondrial encephalopathy with global developmental delay and the biochemical characteristics of lactic acidosis and increased serum pyruvate with normal lactate/pyruvate ratio. Additional reported manifestations include epilepsy peripheral neuropathy hypotonia nystagmus extensor plantar responses hepatomegaly and craniofacial dysmorphism (such as progressive microcephaly epicanthus long philtrum and thin upper lip).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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