Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

Journal of Medical Case Reports
Daniela Avila-SmirnowJorge Förster-Mujica

Abstract

The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients' parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involve...Continue Reading

References

Mar 30, 2000·Pediatric Neurology·B T Darras, N R Friedman
Sep 26, 2006·Molecular Genetics and Metabolism·Paul J IsacksonGeorgirene D Vladutiu
Sep 3, 2010·Neurological Research·Angelica AnichiniCorrado Angelini
Jan 24, 2014·Neurology·Mette Cathrine ØrngreenPascal Laforêt
Mar 10, 2015·Journal of Inherited Metabolic Disease·Pierre G CarlierPascal Laforêt

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Citations

Nov 20, 2019·Journal of Clinical Neuromuscular Disease·Josef FinstererCarla A Scorza

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Methods Mentioned

BETA
biopsy
biopsies
electron microscopy

Software Mentioned

- 2
Polyphen
MutationTaster
SIFT
Align DGVD
Alamut
SeqScape

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