Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency

Kyoko Yokoi, Tetsuya Ito, Yasuhiro Maeda, Yoko Nakajima, Akihito Ueta, Takayasu Nomura, Norihisa Koyama, Ineko Kato, Satoshi Suzuki, Yukihisa Kurono, Naruji Sugiyama, Hajime Togari

Research output: Contribution to journalArticle

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Abstract

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is rare among Asian individuals, and the clinical course and biochemical findings remain unclear. We report herein a 3-year-old Japanese girl with MCADD. The diagnosis was suggested by acylearnitine profiles and confirmed by enzyme activity and genetic analysis after clinical presentation. Our described method with high-performance liquid chromatography/tandem mass spectrometry allows quantification of levels of n-octanoylcarnitine (C8-N) and other isomers (e.g. valproylcarnitine). We examined the patient's acylcarnitine profiles in serum and urine samples during carnitine loading and 14-hr fasting tests with/without camitine supplementation. Under hypocarnitinemia, serum level of C8-N vhs 0.16 μmol/1 and C8-N/decanoylcarnitine (C10) ratio was 1.8, which did not correspond to the diagnostic criteria for MCADD. However, intravenous carnitine loading test (100 mg/kg/day for 3 days and 50 mg/kg/day for 1 day) led to increased serum C8-N levels and urinary excretion was obvious, strongly suggesting MCADD. In the fasting test with carnitine supplementation, marked production of acylcarnitines (C8-N > C2 >> C6 > C10) was found, compared to the fasting test without carnitine supplementation. These results indicate that carnitine supplementation may be useful for detoxification of accumulated acylcarnitines even in an asymptomatic state. Moreover, the one-point estimination for serum C8-N level and/or C8-N/C10 ratio may make the diagnosis of MCADD difficult, particularly in the presence of significant hypocarnitinemia. To avoid this pitfall, attention should be given to serum levels of free carnitine, and carnitine loading may be demanded in hypocarnitinemia.

Original languageEnglish
Pages (from-to)351-359
Number of pages9
JournalTohoku Journal of Experimental Medicine
Volume213
Issue number4
DOIs
Publication statusPublished - 12-12-2007
Externally publishedYes

Fingerprint

Acyl-CoA Dehydrogenase
Carnitine
Fasting
Serum
Asymptomatic Diseases
Detoxification
High performance liquid chromatography
Enzyme activity
Tandem Mass Spectrometry
acylcarnitine
Medium chain acyl CoA dehydrogenase deficiency
Isomers
Mass spectrometry
High Pressure Liquid Chromatography
Urine
Enzymes

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Yokoi, Kyoko ; Ito, Tetsuya ; Maeda, Yasuhiro ; Nakajima, Yoko ; Ueta, Akihito ; Nomura, Takayasu ; Koyama, Norihisa ; Kato, Ineko ; Suzuki, Satoshi ; Kurono, Yukihisa ; Sugiyama, Naruji ; Togari, Hajime. / Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency. In: Tohoku Journal of Experimental Medicine. 2007 ; Vol. 213, No. 4. pp. 351-359.
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abstract = "Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is rare among Asian individuals, and the clinical course and biochemical findings remain unclear. We report herein a 3-year-old Japanese girl with MCADD. The diagnosis was suggested by acylearnitine profiles and confirmed by enzyme activity and genetic analysis after clinical presentation. Our described method with high-performance liquid chromatography/tandem mass spectrometry allows quantification of levels of n-octanoylcarnitine (C8-N) and other isomers (e.g. valproylcarnitine). We examined the patient's acylcarnitine profiles in serum and urine samples during carnitine loading and 14-hr fasting tests with/without camitine supplementation. Under hypocarnitinemia, serum level of C8-N vhs 0.16 μmol/1 and C8-N/decanoylcarnitine (C10) ratio was 1.8, which did not correspond to the diagnostic criteria for MCADD. However, intravenous carnitine loading test (100 mg/kg/day for 3 days and 50 mg/kg/day for 1 day) led to increased serum C8-N levels and urinary excretion was obvious, strongly suggesting MCADD. In the fasting test with carnitine supplementation, marked production of acylcarnitines (C8-N > C2 >> C6 > C10) was found, compared to the fasting test without carnitine supplementation. These results indicate that carnitine supplementation may be useful for detoxification of accumulated acylcarnitines even in an asymptomatic state. Moreover, the one-point estimination for serum C8-N level and/or C8-N/C10 ratio may make the diagnosis of MCADD difficult, particularly in the presence of significant hypocarnitinemia. To avoid this pitfall, attention should be given to serum levels of free carnitine, and carnitine loading may be demanded in hypocarnitinemia.",
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Yokoi, K, Ito, T, Maeda, Y, Nakajima, Y, Ueta, A, Nomura, T, Koyama, N, Kato, I, Suzuki, S, Kurono, Y, Sugiyama, N & Togari, H 2007, 'Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency', Tohoku Journal of Experimental Medicine, vol. 213, no. 4, pp. 351-359. https://doi.org/10.1620/tjem.213.351

Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency. / Yokoi, Kyoko; Ito, Tetsuya; Maeda, Yasuhiro; Nakajima, Yoko; Ueta, Akihito; Nomura, Takayasu; Koyama, Norihisa; Kato, Ineko; Suzuki, Satoshi; Kurono, Yukihisa; Sugiyama, Naruji; Togari, Hajime.

In: Tohoku Journal of Experimental Medicine, Vol. 213, No. 4, 12.12.2007, p. 351-359.

Research output: Contribution to journalArticle

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T1 - Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency

AU - Yokoi, Kyoko

AU - Ito, Tetsuya

AU - Maeda, Yasuhiro

AU - Nakajima, Yoko

AU - Ueta, Akihito

AU - Nomura, Takayasu

AU - Koyama, Norihisa

AU - Kato, Ineko

AU - Suzuki, Satoshi

AU - Kurono, Yukihisa

AU - Sugiyama, Naruji

AU - Togari, Hajime

PY - 2007/12/12

Y1 - 2007/12/12

N2 - Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is rare among Asian individuals, and the clinical course and biochemical findings remain unclear. We report herein a 3-year-old Japanese girl with MCADD. The diagnosis was suggested by acylearnitine profiles and confirmed by enzyme activity and genetic analysis after clinical presentation. Our described method with high-performance liquid chromatography/tandem mass spectrometry allows quantification of levels of n-octanoylcarnitine (C8-N) and other isomers (e.g. valproylcarnitine). We examined the patient's acylcarnitine profiles in serum and urine samples during carnitine loading and 14-hr fasting tests with/without camitine supplementation. Under hypocarnitinemia, serum level of C8-N vhs 0.16 μmol/1 and C8-N/decanoylcarnitine (C10) ratio was 1.8, which did not correspond to the diagnostic criteria for MCADD. However, intravenous carnitine loading test (100 mg/kg/day for 3 days and 50 mg/kg/day for 1 day) led to increased serum C8-N levels and urinary excretion was obvious, strongly suggesting MCADD. In the fasting test with carnitine supplementation, marked production of acylcarnitines (C8-N > C2 >> C6 > C10) was found, compared to the fasting test without carnitine supplementation. These results indicate that carnitine supplementation may be useful for detoxification of accumulated acylcarnitines even in an asymptomatic state. Moreover, the one-point estimination for serum C8-N level and/or C8-N/C10 ratio may make the diagnosis of MCADD difficult, particularly in the presence of significant hypocarnitinemia. To avoid this pitfall, attention should be given to serum levels of free carnitine, and carnitine loading may be demanded in hypocarnitinemia.

AB - Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is rare among Asian individuals, and the clinical course and biochemical findings remain unclear. We report herein a 3-year-old Japanese girl with MCADD. The diagnosis was suggested by acylearnitine profiles and confirmed by enzyme activity and genetic analysis after clinical presentation. Our described method with high-performance liquid chromatography/tandem mass spectrometry allows quantification of levels of n-octanoylcarnitine (C8-N) and other isomers (e.g. valproylcarnitine). We examined the patient's acylcarnitine profiles in serum and urine samples during carnitine loading and 14-hr fasting tests with/without camitine supplementation. Under hypocarnitinemia, serum level of C8-N vhs 0.16 μmol/1 and C8-N/decanoylcarnitine (C10) ratio was 1.8, which did not correspond to the diagnostic criteria for MCADD. However, intravenous carnitine loading test (100 mg/kg/day for 3 days and 50 mg/kg/day for 1 day) led to increased serum C8-N levels and urinary excretion was obvious, strongly suggesting MCADD. In the fasting test with carnitine supplementation, marked production of acylcarnitines (C8-N > C2 >> C6 > C10) was found, compared to the fasting test without carnitine supplementation. These results indicate that carnitine supplementation may be useful for detoxification of accumulated acylcarnitines even in an asymptomatic state. Moreover, the one-point estimination for serum C8-N level and/or C8-N/C10 ratio may make the diagnosis of MCADD difficult, particularly in the presence of significant hypocarnitinemia. To avoid this pitfall, attention should be given to serum levels of free carnitine, and carnitine loading may be demanded in hypocarnitinemia.

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