x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Systemic primary carnitine deficiency

Disease definition

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

ORPHA:158

  • Synonym(s):
    • CDSP
    • CUD
    • Carnitine transporter defect
    • Carnitine uptake deficiency
    • Deficiency of plasma-membrane carnitine transporter
    • SPCD
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 212140
  • UMLS: -
  • MeSH: -
  • GARD: 5104
  • MedDRA: -

Detailed information

Professionals

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.