Diseases Studied
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All Diseases > Pyruvate dehydrogenase complex deficiencies
Pyruvate dehydrogenase complex deficiencies (PDCD)
Alternative Names: Ataxia with Lactic Acidosis; Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency; Pyruvate Dehydrogenase Deficiency (PDH Deficiency; PDHC Deficiency)
Disease Category: Mitochondrial Disorders
A rare disorder with varying inheritance patterns characterized by deficiency of the enzyme that breaks down pyruvate in the first step of the Krebs cycle. The Krebs cycle is required to release energy stored in carbohydrates, fats, and proteins. Due to this energy disruption, elevations of pyruvate and lactic acid occur and cause psychomotor regression or delay (impairments in mental and motor skills), cognitive impairments, difficulty walking, poor coordination, hypotonia (low muscle tone), seizures, structural brain abnormalities, breathing problems, irregular heartbeat, nausea, and vomiting.
Research groups studying this disease
Mitochondrial Disorders
North American Mitochondrial Disease Consortium (NAMDC)
Recruiting
7413: Advanced Genetic Study and Pilot Newborn Screening for Disorders of Pyruvate Metabolism
Continue the longitudinal natural history study of phenotypic and genetic features of PDC deficiencies by integration with the NAMDC Patient Data Registry and Biorepository, recruitment of a broad group of subjects, and detailed longitudinal follow-up, to identify and objective measurable clinically relevant outcomes, biomarkers, and responses to treatments.
MitoAction
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.