Mitochondrial pyruvate carrier deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version March 2024

Newly diagnosed with
Mitochondrial pyruvate carrier deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.