"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child.
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.
Gempel
K
K
Institute for Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany. Klaus.Gempel@lrz.uni-muenchen.de
von Praun
C
C
Baumkötter
J
J
Lehnert
W
W
Ensenauer
R
R
Gerbitz
K D
KD
Bauer
M F
MF
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
D002334:Carnitine O-Palmitoyltransferase