What is included in patient education about carnitine deficiency?

Updated: Dec 13, 2019
  • Author: Fernando Scaglia, MD, FACMG; Chief Editor: Maria Descartes, MD  more...
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Answer

Family members should receive education once the work-up initiated after newborn screening results suggests primary carnitine deficiency in the newborn or in the mother.

Family members should receive cardiopulmonary resuscitation (CPR) training (cases of apnea or near-miss SIDS).

Family members should be taught to recognize early signs and symptoms of hypoglycemia and should be instructed to provide either glucose gel or glucagon injection while waiting for emergency aid.

Educate family members about frequent feedings and avoidance of fasting in general. If oral intake is decreased or poor, the child should be seen immediately at pediatrician's office or rushed to the emergency room.

Educate family members about the importance of continuing carnitine supplementation.

Educate family members about adhering to fat-restricted diet in fatty acid oxidation disorders or special protein-restricted diet in organic acidemias causing secondary carnitine deficiency.

Refer parents for genetic counseling and discussion of recurrence risk for future pregnancies.

Educate family members about the possibility of prenatal diagnosis. If the molecular defect has been established in the proband (primary carnitine deficiency or medium-chain acyl-CoA dehydrogenase [MCAD] deficiency), molecular analysis can be performed.


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