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Article

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.

The Journal of craniofacial surgery - 1 Sept 2018

Hu Ching-Wei, Hu Ching-Hsuan, Wu-Chou Yah-Huei, Lo Lun-Jou

Abstract excerpt

BACKGROUND: Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking of...

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Source

Identifiers

PMID: 29750726
DOI: 10.1097/SCS.0000000000004595

Genes

SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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