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- Title
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.
- Authors
Chinen, Yasutsugu; Yanagi, Kumiko; Nakamura, Sadao; Nakayama, Noriko; Kamiya, Motoko; Nakayashiro, Mami; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi
- Abstract
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.
- Subjects
GENETIC mutation; HYPOGLYCEMIA; ARRHYTHMIA; AUTOPSY; PATIENTS
- Publication
Human Genome Variation, 2020, Vol 7, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-020-0098-y