SLC22A5 mutations in a patient with systemic primary carnitine deficiency: The first Korean case confirmed by biochemical and molecular investigation
- Authors
- Yoon Y.A.[Yoon Y.A.]; Lee D.H.[Lee D.H.]; Ki C.-S.[Ki C.-S.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Lee Y.-W.[Lee Y.-W.]; Park H.-D.[Park H.-D.]
- Issue Date
- 2012
- Keywords
- Korea; Mutation; OCTN2; SLC22A5; Systemic primary carnitine deficiency
- Citation
- Annals of Clinical and Laboratory Science, v.42, no.4, pp.422 - 423
- Indexed
- SCIE
SCOPUS
- Journal Title
- Annals of Clinical and Laboratory Science
- Volume
- 42
- Number
- 4
- Start Page
- 422
- End Page
- 423
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/67058
- ISSN
- 0091-7370
- Abstract
- Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder that presents episodic periods of hypoketotic hypoglycemia. The main symptoms of CDSP are skeletal and cardiac myopathy. CDSP is caused by a defect in plasma membrane uptake of carnitine, ultimately caused by the SLC22A5 gene. We report the case of a Korean patient with CDSP. He had an abnormal free carnitine level of 5.56 μmol/L (reference range, RR 10.4~87.1 μmol/L) and a palmitoylcarnitine level of 0.27 μmol/L (RR 0.5~9.7 μmol/L) in a newborn screening test. The patient showed an ammonia level of 129.4 ug/dL (RR, 25~65 ug/dL), a lactate level of 4.5 mmol/L (RR, 0.5-2.2 mmol/L), and a free carnitine level of 10.3 μmol/L (RR, 36-74 μmol/L) in blood. After PCR-sequencing analysis of the SLC22A5 gene, the patient was found to be a compound heterozygote for c.506G>A (p.R169Q) and c.1400C>G (p.S467C) mutations. These missense mutations are reported previously. The patient was started on L-carnitine supplement after CDSP diagnosis. The patient was treated with L-carnitine to reach a normal free carnitine level and has remained asymptomatic up to the current age of 21 months. The plasma free carnitine level normalized to 66.6 μmol/L at 4 weeks after treatment. To the best of our knowledge, this is the first report of a CDSP patient confirmed by molecular genetic investigation. © 2012 by the Association of Clinical Scientists, Inc.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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