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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-04-2010
Symbol CDSP
Location 5q31.1
Name carnitine deficiency, systemic primary
Corresponding gene SLC22A5
Main clinical features
  • characterized by cardiomyopathy, muscle weakness, hypoketotic coma with hypoglycemia and hyperammonemia, and in any cases sudden infant death, homolog of juvenile visceral steatosis in mice; heterozygotes having low levels of carnitine and may be predisposed to late onset benign cardiomyopathy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name high affinity carnitine transporter (SLC22A5)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein deletion 17081C resulting in a frameshift at R282D