NCC Knowledge Nugget Series: Carnitine Palmitoyltransferase II (CPT II) Deficiency ACT Sheet-CPT 2 ACT Sheet

CPT 2 ACT Sheet

Pdf Summary

The provided document is an ACT Sheet, primarily serving as an educational resource for medical geneticists and clinicians to enhance the quality of medical services. It emphasizes that adherence is voluntary and does not guarantee successful medical outcomes. Clinicians should use their judgment and document reasons for following or diverging from the guidelines. Intellectual property considerations for certain tests and procedures are also advised.<br /><br />Key Focus: Newborn Screening ACTSheet for increased C16 and/or C18:1 acylcarnitine, indicating possible Carnitine Palmitoyltransferase II (CPT II) Deficiency or Carnitine Acylcarnitine Translocase (CACT) Deficiency.<br /><br />**Conditions Described**:<br />- **CPT II Deficiency**: Impaired transport of long-chain acylcarnitines for fatty acid oxidation, leading to hypoglycemia and multi-organ involvement, especially severe in its neonatal form.<br />- **CACT Deficiency**: Similar clinical presentation as CPT II deficiency, leading to severe illness in neonates.<br /><br />**Immediate Actions for Clinicians**:<br />1. Inform the family about the newborn screening result.<br />2. Check for symptoms such as poor feeding, lethargy, and history of unexplained sibling death.<br />3. Consult a pediatric metabolic specialist immediately.<br />4. Evaluate for acute illness signs (hypoglycemia, hepatic dysfunction, cardiac issues, or seizures).<br />5. If the newborn is ill, consider hospitalizing for further treatment.<br />6. Begin confirmatory tests and management.<br />7. Provide families with basic information on CPT II and CACT deficiencies.<br />8. Report the diagnostic outcomes to the newborn screening program.<br /><br />**Diagnostic Evaluation**:<br />- Elevated plasma acylcarnitines (C16 and/or C18:1).<br />- Molecular genetic testing to distinguish between CPT II and CACT deficiencies.<br /><br />**Clinical Considerations**:<br />- **Neonatal CPT II**: Severe symptoms, including hypoglycemia, metabolic acidosis, cardiac and liver issues, potentially leading to fatality.<br />- **Later-Onset CPT II**: Muscle weakness, exercise intolerance, and rhabdomyolysis.<br />- **CACT Deficiency**: Severe neonatal illness similar to neonatal CPT II deficiency.<br /><br />**Additional Information Links**:<br />- How to communicate newborn screening results.<br />- Emergency protocols.<br />- Gene Reviews.<br />- Medline Plus for CPT II and CACT information.<br />- Information for families from HRSA Newborn Screening Clearinghouse.<br />- ClinGen Actionability Report.<br />- Referral directory for genetic clinics.<br />- Genetic Testing Registry.<br /><br />The document emphasizes the need for timely action, consultation with specialists, and clear communication with families.

Keywords

Newborn Screening

CPT II Deficiency

CACT Deficiency

Acylcarnitine

Hypoglycemia

Pediatric Metabolic Specialist

Molecular Genetic Testing

Neonatal Illness

Diagnostic Evaluation

Family Communication