Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)

Pyruvate dehydrogenase E1-beta deficiency is a pan-ethnic disorder caused by pathogenic variants in the gene PDHB. Age of onset is usually in childhood, but has been reported to occur sometimes in infancy or adolescence. Clinical features vary between patients, but have been reported to include lactic acidosis in infants, which may be fatal, to chronic neurological dysfunction, brain malformations and intellectual disability. Some patients have a milder form characterized by recurrent episodes of ataxia and confusion, with no learning disabilities. These patients may survive into adulthood. Currently, it is not possible to predict the severity of disease from the patients genotype.

For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.