Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0040425 (
tonsillitis
)
1,594
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A case is reported of a 39-year-old woman with recurrent rhabdomyolysis caused by minor S. pyogenes
tonsillitis
. She was diagnosed with the adult form of
CPT
-II deficiency. Molecular analysis revealed compound heterozygosity for a common c.338C > T (p.Ser113Leu) mutation in exon 3 and a most likely pathogenic c.200C > G (p.Ala67Gly) variant in exon 2. Here we discuss the case, along with a clinical review of rhabdomyolysis and adult
CPT
-II deficiency. When a patient presents with recurrent episodes of rhabdomyolysis, especially when provoked by minor causes, a thorough work-up for a possible metabolic myopathy is mandatory.
...
PMID:Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation. 1923 46
