title: "Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child.
abstract: We describe a 6-year-old girl admitted with acute muscular weakness and pain which made her unable to walk. Her parents reported a 4-year history of similar episodes which occurred once or twice a year and always resolved spontaneously. Laboratory investigations showed elevated serum creatine kinase which peaked at day 2 of the attack with 18,600 U/l. Carnitine palmitoyltransferase-II deficiency was suspected based on the determination of serum acylcarnitines by tandem mass spectrometry which showed a characteristic elevation of long-chain C16 and C18:1 acylcarnitines. The diagnosis was confirmed by impaired in-vitro palmitate oxidation in blood and the detection of a homozygous substitution S113L in the carnitine palmitoyltransferase-II gene.
  
  
  CONCLUSIONS
  Carnitine palmitoyltransferase-II deficiency should be included in the differential diagnosis of isolated muscular weakness even when manifesting in early childhood.
authors.affiliation: Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany. Klaus.Gempel@lrz.uni-muenchen.de
authors.forename: K
authors.initials: K
authors.lastname: Gempel
authors.forename: C
authors.initials: C
authors.lastname: von Praun
authors.forename: J
authors.initials: J
authors.lastname: Baumkötter
authors.forename: W
authors.initials: W
authors.lastname: Lehnert
authors.forename: R
authors.initials: R
authors.lastname: Ensenauer
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
authors.forename: M F
authors.initials: MF
authors.lastname: Bauer
mesh_terms: D017668:Age of Onset; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D013058:Mass Spectrometry; D020967:Myotonic Disorders / Q000175:diagnosis* / Q000201:enzymology*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D002334:Carnitine O-Palmitoyltransferase