A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.
Yasutsugu ChinenKumiko YanagiSadao NakamuraNoriko NakayamaMotoko KamiyaMami NakayashiroTadashi KanameKenji NaritomiKoichi NakanishiPublished in: Human genome variation (2020)
Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ß-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. We evaluated three patients, including two siblings, with neonatal-onset CACT deficiency and revealed identical homozygous missense mutations of p.Arg275Gln within the SLC25A20 gene. One patient died from hypoglycemia and arrhythmia at 26 months; his pathological autopsy revealed increased and enlarged mitochondria in the heart but not in the liver.
Keyphrases
- end stage renal disease
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- fatty acid
- type diabetes
- cell death
- intellectual disability
- prognostic factors
- heart failure
- metabolic syndrome
- atrial fibrillation
- machine learning
- case report
- skeletal muscle
- hydrogen peroxide
- big data
- artificial intelligence
- smoking cessation