Carnitine palmitoyltransferase I deficiency

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Web Resources for Carnitine palmitoyltransferase I deficiency


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CPT IA deficiency which prevents carnitine mediated long chain fatty acid transport into mitochondria for beta-oxidation presents in early childhood as:

  • Diarrhoea
  • Failure to thive
  • Hypotonia
  • Lethargy
  • Hepatomegaly
  • Hypoketotic hypoglycaemia