Rhabdomyolysis and Metabolic Myopathy
Gene: CPT2
Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.
Well established gene-disease association, multiple families reported.
Evidence for mono-allelic variants causing mild, adult-onset disease is limited (most of those with later onset have had bi-allelic variants).Created: 22 Nov 2021, 2:09 a.m. | Last Modified: 22 Nov 2021, 2:09 a.m.
Panel Version: 0.9788
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Publications
PMID: 31541997 - One child with exercise-induced weakness, mild muscle hypotonia and slightly elevated CK levels. Patient was chet for two missense variants.
PMID: 30149802 - One family (two children) with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. Patients had elevated CK levels. Carrier parents were normal. Patients were chet for two missense variants, one variant (p.Ser113Leu) is common in gnomAD but 14x pathogenic in ClinVar, recurring pathogenic variant.
PMID: 11585077 - One child with acute muscular weakness, patient was homozygous for the recurring missense (p.Ser113Leu)
Sources: Expert listCreated: 22 Jun 2020, 3:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, myopathic, stress-induced 255110
Publications
Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 7:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110
Publications
Gene: cpt2 has been classified as Green List (High Evidence).
Tag treatable tag was added to gene: CPT2.
gene: CPT2 was added gene: CPT2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110