Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.
J Int Med Res
; 51(4): 3000605231163811, 2023 Apr.
Article
in En
| MEDLINE
| ID: mdl-37115522
ABSTRACT
The current case report describes the clinical, biochemical and genetic characteristics of carnitine-acylcarnitine translocase deficiency (CACTD) in infant male and female twins that presented with symptoms shortly after elective caesarean delivery. The clinical manifestations were neonatal hypoglycaemia, arrhythmia and sudden death. The age of onset was 1.5 days and the age of the death was 1.5-3.5 days. Dried blood filter paper analysis was used for the detection of acylcarnitine. Peripheral venous blood and skin samples were used for next-generation sequencing. The twins and their parents underwent gene analysis and whole exome sequencing analyses of the solute carrier family 25 member 20 (SLC25A20; also known as carnitine-acylcarnitine translocase) gene. Both infants carried compound heterozygous variants of the SLC25A20 gene variant M1c.706_707insTp.R236L fs*12 and variant M2c.689C>Gp.P230R. The M1 variant was paternal and had not been previously reported regarding CACTD. The M2 variant was maternal. CACTD has severe clinical manifestations and a poor prognosis, which is manifested as hypoketotic hypoglycaemia, hyperammonaemia, liver function damage and elevated creatine kinase.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hypoglycemia
/
Lipid Metabolism, Inborn Errors
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
J Int Med Res
Year:
2023
Document type:
Article
Affiliation country:
China