Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?

Mol Genet Metab. 2012 Jun;106(2):251-2. doi: 10.1016/j.ymgme.2012.04.007. Epub 2012 Apr 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biomarkers / blood
  • Brain Diseases, Metabolic, Inborn / diagnosis*
  • Brain Diseases, Metabolic, Inborn / genetics
  • Brain Diseases, Metabolic, Inborn / metabolism
  • Child, Preschool
  • Creatine / deficiency
  • Creatine / genetics
  • Creatine / metabolism
  • Creatine Kinase / blood*
  • Guanidinoacetate N-Methyltransferase / metabolism
  • Humans
  • Infant
  • Male
  • Membrane Transport Proteins / genetics
  • Mutation
  • Plasma Membrane Neurotransmitter Transport Proteins / deficiency
  • Plasma Membrane Neurotransmitter Transport Proteins / genetics
  • Plasma Membrane Neurotransmitter Transport Proteins / metabolism
  • X-Linked Intellectual Disability / diagnosis*
  • X-Linked Intellectual Disability / genetics
  • X-Linked Intellectual Disability / metabolism

Substances

  • Biomarkers
  • Membrane Transport Proteins
  • Plasma Membrane Neurotransmitter Transport Proteins
  • creatine transporter
  • GAMT protein, human
  • Guanidinoacetate N-Methyltransferase
  • Creatine Kinase
  • Creatine

Supplementary concepts

  • Creatine deficiency, X-linked