Pyruvate Dehydrogenase Complex Deficiency Follow-up

Updated: Feb 18, 2016
  • Author: Richard E Frye, MD, PhD; Chief Editor: Luis O Rohena, MD  more...
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Follow-up

Further Outpatient Care

Provide close follow-up for children with pyruvate dehydrogenase complex deficiency. Closely monitor lactate levels.

To help evaluate dietary manipulations and to ensure compliance, have caregivers of children with pyruvate dehydrogenase complex deficiency complete a dietary log.

Advise caregivers of individuals with pyruvate dehydrogenase complex deficiency to always carry an informational statement that describes pyruvate dehydrogenase complex deficiency and the appropriate medical treatment for the disorder in an emergency setting.

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Further Inpatient Care

Acute decompensation during acute pyruvate dehydrogenase complex (PDC) deficiency (PDCD) requires admission and management of acidosis with intravenous bicarbonate.

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Prognosis

Individuals with mild deficiencies in the E1 enzyme of the pyruvate dehydrogenase complex have a better prognosis than those with deficiencies in the E2 and E3 pyruvate dehydrogenase complex enzymes.

Prediction of prognosis is unclear because of the small number of children with pyruvate dehydrogenase complex deficiency studied and the large number of mutations involved. Complications include Leigh syndrome, seizures, and CNS deterioration in many patients with pyruvate dehydrogenase deficiency, and there is a high morbidity and mortality rate. [3]

In most cases of neonatal-onset and infantile-onset of pyruvate dehydrogenase complex deficiency, a poor prognosis remains, even when the lactic acidosis is treated successfully. Although lactic acidosis appears to be controlled by thiamine supplementation in individuals who respond to thiamine, the neurological outcome may be poor.

One case report describes cessation of neurological demyelination with the ketogenic diet; however, the ketogenic diet has not been reported to be of significant neurologic benefit to other patients with pyruvate dehydrogenase complex deficiency. [10]

Dichloroacetate appears to produce biochemical correction of pyruvate dehydrogenase complex deficiency in many cases, but resolution of neurologic symptoms is exceptional. Structural CNS abnormalities likely cannot be reversed with successful biochemical treatment.

Dichloroacetate may have greater efficacy with particular mutations of the E1 subunit.

In general, treatment of individuals with pyruvate dehydrogenase complex deficiency is most beneficial if started early. Although successful treatment is rare, some cases have been reported.

Although the recurrence rate for subsequent pregnancies is low, test future gestations for pyruvate dehydrogenase complex deficiency because of the possibility of germline mosaicism. Enzyme activity of cultured chorionic villus cells can be determined in time to make an early diagnosis. Inaccuracies in the diagnosis of the female fetus arise from X chromosome inactivation.

Individuals with an E2 subunit deficiency may have a mild phenotype.

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Patient Education

Educate the patient with pyruvate dehydrogenase complex deficiency and the caregivers regarding the factors that may elicit a crisis and the early signs of decompensation.

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