Genetics of Pyruvate Carboxylase Deficiency Follow-up

Updated: Mar 15, 2019
  • Author: Richard E Frye, MD, PhD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Further Outpatient Care

Lactate levels should be closely monitored.

A dietary log should be completed to help evaluate dietary manipulations and to ensure compliance.

An informational statement that describes the child's disorder and the appropriate medical treatment for the disorder in an emergency setting should be carried by the parents at all times.


Further Inpatient Care

Acute decompensation during illness in patients with pyruvate carboxylase deficiency (PCD) requires admission and management of the acidosis with hydration and intravenous bicarbonate.

The patient must be supplied with adequate carbohydrates.



Although diet manipulation and supplementation of substrates and cofactors can reverse some of the biochemical abnormalities, neurologic abnormalities typically progress, and demise within the first 6 months of life is the rule.

Enzyme activity of cultured chorionic villus cells can be determined in time to allow for early prenatal diagnosis.


Patient Education

The patient and the parents should be well educated on the factors that elicit a crisis and the early signs of decompensation.

For excellent patient education resources, please refer to eMedicinehealth.