Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro

Lodovica Vergani, Corrado Angelini

Research output: Contribution to journalArticlepeer-review

Abstract

An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation. Carnitine uptake was studied in 20-day-old cultured muscle, where two distinct saturable transport components are recognized: the high- and low-affinity-uptake. Experimental evidence suggests that low-affinity-uptake is muscle-specific, operating at physiological carnitine concentration. In the patient's cultured myotubes, the low-affinity-uptake K(m) was 260% of controls (P

Original languageEnglish
Pages (from-to)320-322
Number of pages3
JournalNeuromuscular Disorders
Volume9
Issue number5
DOIs
Publication statusPublished - Jul 1 1999

Keywords

  • Infantile lipid storage myopathy
  • Low-affinity muscle carnitine
  • Nocturnal hypoventilation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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