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Table 4 Clinical forms of CPTII deficiency and main pathogenic reported variants of the CPTII gene (modified by Wieser T., 2019 [14])

From: Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome

Clinical form

Main pathogenic variants of CPTII

Neonatal lethal (AR)

c.680 C > T (p.Pro227Leu)

Hepatocardiomuscular infantile (AR/compound heterozygosity)

c.359 A > G (p.Tyr120Cys)

c.1507 C > T (p.Arg503Cys)

c.1883 A > C (p.Tyr628Ser)

c.1891 C > T (p.Arg631Cys)

Myopathic (AR/AD)

c.338 C > T (p.Ser113Leu)

c.149 C > A (p.Pro50His)

  1. AR = autosomal recessive; AD = autosomal dominant
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Italian Journal of Pediatrics

ISSN: 1824-7288

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