A female case of carnitine palmitoyltransferase deficiency

T. Taniwaki, J. Kira, T. Kitaguchi, I. Goto, N. Sugiyama

Research output: Contribution to journalArticle

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Abstract

A 17-year old woman noted myalgia after taking a long distance walk at the age of 10. In adolescence, she had several episodes of myalgia and pigmenturia after athletic activity or infection. At age 17, myoglobinuria and abnormally increased serum creatine kinase were documented after one of these episodes. The neurological examination revealed mild proximal muscle weakness of upper extremities. Electromyography showed myogenic patterns, such as brief, small abundant potentials on them. Venous lactate was raised normally on the ischemic exercise test. During prolonged fasting, plasma ketone bodies increased normally but there were abnormal elevations of plasma creatine kinase and myoglobin. Morphometric analysis of electron microscopy in muscle showed few lipid deposits and that of light microscopy revealed no abnormality. CPT activity in muscle was only 15% of normal value by the isotope-exchange assay. These results were consistent with the diagnosis of CPT deficiency. Although several cases of CPT deficiency with recurrent myoglobinuria have been reported in Western countries, our patients is the first case of Japanese showing recurrent myoglobinuria. CPT deficiency should be considered as a differential diagnosis in cases of recurrent myoglobinuria.

Original languageEnglish
Pages (from-to)382-384
Number of pages3
JournalClinical Neurology
Volume29
Issue number3
Publication statusPublished - Mar 1 1989

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Carnitine O-Palmitoyltransferase
Myalgia
Creatine Kinase
Myoglobinuria
Ketone Bodies
Muscles
Myoglobin
Muscle Weakness
Neurologic Examination
Electromyography
Exercise Test
Upper Extremity
Isotopes
Sports
Microscopy
Lactic Acid
Fasting
Electron Microscopy
Reference Values
Differential Diagnosis

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Taniwaki, T., Kira, J., Kitaguchi, T., Goto, I., & Sugiyama, N. (1989). A female case of carnitine palmitoyltransferase deficiency. Clinical Neurology, 29(3), 382-384.

A female case of carnitine palmitoyltransferase deficiency. / Taniwaki, T.; Kira, J.; Kitaguchi, T.; Goto, I.; Sugiyama, N.

In: Clinical Neurology, Vol. 29, No. 3, 01.03.1989, p. 382-384.

Research output: Contribution to journalArticle

Taniwaki, T, Kira, J, Kitaguchi, T, Goto, I & Sugiyama, N 1989, 'A female case of carnitine palmitoyltransferase deficiency', Clinical Neurology, vol. 29, no. 3, pp. 382-384.
Taniwaki T, Kira J, Kitaguchi T, Goto I, Sugiyama N. A female case of carnitine palmitoyltransferase deficiency. Clinical Neurology. 1989 Mar 1;29(3):382-384.
Taniwaki, T. ; Kira, J. ; Kitaguchi, T. ; Goto, I. ; Sugiyama, N. / A female case of carnitine palmitoyltransferase deficiency. In: Clinical Neurology. 1989 ; Vol. 29, No. 3. pp. 382-384.
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