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 language | English |
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Pages (from-to) | 320-322 |
Number of pages | 3 |
Journal | Neuromuscular Disorders |
Volume | 9 |
Issue number | 5 |
DOIs | |
Publication status | Published - 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