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NCC Knowledge Nugget Series: Carnitine Palmitoyltr ...
CPT 2 Knowledge Nugget
CPT 2 Knowledge Nugget
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Video Transcription
Video Summary
This educational session on newborn screening for carnitine palmitoyltransferase 2 (CPT2) and carnitine acylcarnitine translocase (CACT) deficiencies covers their genetic basis, symptoms, and necessary actions for screen-positive cases. CPT2 and CACT deficiencies, both autosomal recessive, impair fat metabolism, leading to severe neonatal forms with poor prognosis and milder muscular forms. Key steps include contacting the family, evaluating for symptoms, arranging genetic counseling and specialist referrals, and confirming the diagnosis. Management involves a specific diet, frequent meals, and avoiding fasting. ACT sheets on these disorders are available for further guidance.
Keywords
newborn screening
CPT2 deficiency
CACT deficiency
genetic counseling
fat metabolism
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