Case reportsCarnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF
Section snippets
Case report
A 24-year-old Japanese man was transferred to the emergency department of Fukuoka University Hospital and Clinic (Fukuoka, Japan) because of ARF. Three years before presentation, he developed an illness characterized by high fever, myalgia, respiratory symptoms, and dark-colored urine. After hospitalization, he was found to have markedly elevated levels of serum muscle enzymes and urine myoglobin, and a diagnosis of rhabdomyolysis, probably caused by a viral infection or drugs prescribed for a
Discussion
Nontraumatic or non–drug-induced rhabdomyolysis is seen after exhaustive exercise and after severe infection, evidenced by dark-colored urine, recognized as one of the frequent causes of ARF, and, in rare cases, presents repeatedly and among family members.9, 10, 11, 12, 13 Familial rhabdomyolysis often is attributed to deficiency of enzymes related to the metabolism of long-chain fatty acids. CPT II mutation is the most common disorder affecting mitochondrial β-oxidation. Genetic analyses have
Acknowledgment
The authors thank Kaoru Kojima for excellent technical and secretarial assistance.
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Cited by (19)
Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency
2014, Biochemical and Biophysical Research CommunicationsCitation Excerpt :Genetic identity was confirmed by STR analyses of the patient fibroblasts and iPSCs (data not shown). Mutation analysis of the causative gene revealed that the patient had compound heterozygous mutations in the CPT2 [10]. Genomic analysis showed that both CPTIID-iPSCs and their parental fibroblasts possessed mutant CPT2 alleles (Fig. 1D).
Retrospective review of Japanese sudden unexpected death in infancy: The importance of metabolic autopsy and expanded newborn screening
2011, Molecular Genetics and MetabolismCitation Excerpt :Since CPT II deficiency was first described in 1973 [15], many case reports have been published. More than 70 disease-causing mutations have been reported [19,20,22,28–53], including mutations predominant in Japanese [20–23]. The p.F352C substitution is a common sequencing polymorphism in Japan [21,22], while the p.V368I substitution was also reported to be a sequencing polymorphism that occurred in a normal Southern European population with an allelic frequency of 0.51 [19].
Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers
2011, Legal MedicineCitation Excerpt :Intronic primers for amplification from genomic DNA were designed for each exon (exons 2–18, 39–47, and 85–105) containing the three mutational hot–spot regions (exons 2–17, 39–46, and 85–103). Mutations of the CPT II gene were analyzed according to the method of Kaneoka et al. [16]. The VLCAD gene contains 20 exons [23] and we designed primer pairs for all of its exons.
An autopsy case of rhabdomyolysis related to vegetamin and genetic analysis of the rhabdomyolysis-associated genes
2010, Journal of Forensic and Legal MedicineCitation Excerpt :Intronic primers for amplification from genomic DNA were designed for each exon within the three mutational hot-spot regions (exons 2–17, 39–46, 85–103). Mutations of the CPT II gene were analyzed according to the method of Kaneoka et al.7 The VLCAD gene contains 20 exons, and we designed primer pairs for all its exons. CYP2C19, a metabolic enzyme for phenobarbital, was analyzed according to the method of Morita et al.15 CYP2D6, a metabolic enzyme for promethazine and chlorpromazine, was analyzed using primer pairs specific to the CYP2D6 gene.
Genetic analysis of ryanodine receptor 1 gene and carnitine palmitoyltransferase II gene: An autopsy case of neuroleptic malignant syndrome related to vegetamin
2009, Legal MedicineCitation Excerpt :Intronic primers for amplification from genomic DNA were designed for each exon within the three mutational hot-spot regions (exons 2–17, 39–46, 85–103). Mutation in the CPT II gene was analyzed according to the method of Kaneoka et al. [1]. There was no mutation which causes amino acid substitution in the RYR 1 gene.
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
2008, Molecular Genetics and Metabolism
Originally published online as doi:10.1053/j.ajkd.2004.12.006 on January 27, 2005.
Supported in part by fund no. 026006 from the Central Research Institute of Fukuoka University and a grant for Progressive Renal Diseases from the Ministry of Health, Labor, and Welfare, Japan.