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An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease |
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| Authors: | K. Ihara R. Kuromaru Y. Inoue T. Kuhara I. Matsumoto M. Yoshino J. Fukushige |
| Affiliation: | (1) Department of Paediatrics, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, Fukuoka 812-82, Japan; Tel.: 82-92-641-1151 (ext 2377); Fax: 82-92-633-3365, JP;(2) Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan, JP;(3) Department of Paediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan, JP |
| Abstract: | We describe an asymptomatic male infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency who came to medical attention by newborn mass screening due to elevated blood leucine. The diagnosis was made by abnormal urinary organic acids at 20 days of age and was confirmed by assay of the carboxylase activities in cultured skin fibroblasts. Conclusion More attention should be paid to slight elevations of leucine levels in newborn mass screening. Urinary organic acid analysis should be performed in conspicuous cases. Received: 9 October 1996 / Received in revised form and accepted: 18 February 1997 |
| Keywords: | Isolated 3-methylcrotonyl-coenzyme A car boxylase Newborn mass screening Gas chromatog raphy-mass spectrometry |
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