Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation

Introductıon

Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation is caused by mutations in the SLC22A5 gene which is located on chromosome 5q23.3 and encodes the organic cation/​carnitine transporter (OCTN) 2. Carnitine transporter defects result in increased carnitine losses in the urine, low plasma carnitine levels, and intracellular carnitine deficiency (Magoulas P. L. et al., Orphanet J Rare Dis 7, 2012; 68). The incidence of primary carnitine deficiency varies depending on ethnicity and is approximately 1:37 000 to 1:142 000 newborns (Koizumi A. et al., Hum Mol Genet 1999; 8: 2247–2254; Wilcken B. et al., J Pediatr 2001; 138: 581–584; Therrell BL Jr et al., Mol Genet Metab 2014; 113: 14–26). The highest incidence 1:300 newborns in the Faroe Islands (Rasmussen J et al., J Inherit Metab Dis 2014; 37: 215–222).

The clinical manifestations of primary carnitine deficiency may vary according to age of onset, organ involvement, and severity of symptoms. The metabolic decompensation symptom presents usually before two years of age which presents poor feeding, irritability, mental changes, and hypoketotic hypoglycemia (Magoulas P. L. et al., Orphanet J Rare Dis 7, 2012; 68). Affected individuals typically characterized hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia early in life, or with skeletal and cardiac myopathy, high levels of creatine kinase in childhood, in adults the disorder manifested as cardiomyopathy, arrhythmias, or fatigability (Magoulas P. L. et al., Orphanet J Rare Dis 7, 2012; 68).

We present a case of primary carnitine deficiency diagnosed by showing a mutation of the SLC22A5 gene that encodes the OCTN2 carnitine transporter.

Publikationsverlauf

Artikel online veröffentlicht:
12. Juli 2022