The affected infant may exhibit dysmorphic features, including microcephaly, overfolded helices, a sloping forehead, long and tapered fingers and toes, contractures, and hypoplastic toenails ( Among the various phenotypic forms of CPT II deficiency, the severe infantile hepatocardiomuscular type typically presents with hypoketotic hypoglycemia, liver failure, and cardiomyopathy within the first year of life
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While this provides an immediate spike in blood levels, it is an invasive and often expensive option
[5] [6] Progressive neurological symptoms may require same-day assessment
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