Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels for...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2014-07-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-57-329.pdf |
| _version_ | 1819294897797070848 |
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| author | Sun Hee Lee Yong Hee Hong |
| author_facet | Sun Hee Lee Yong Hee Hong |
| author_sort | Sun Hee Lee |
| collection | DOAJ |
| description | 3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant. |
| first_indexed | 2024-12-24T04:33:37Z |
| format | Article |
| id | doaj.art-cb4aa4615f6444f4a313fb9b6ee649af |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-24T04:33:37Z |
| publishDate | 2014-07-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-cb4aa4615f6444f4a313fb9b6ee649af2022-12-21T17:15:19ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582014-07-0157732933210.3345/kjp.2014.57.7.3292014600012Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening testSun Hee Lee0Yong Hee Hong1Department of Pediatrics, Gachon University Gil Medical Center, Incheon, Korea.Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Bucheon, Korea.3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.http://kjp.or.kr/upload/pdf/kjped-57-329.pdfNeonatal screening3-Methylcrotonyl CoA carboxylaseAsymptomatic diseaseMotherUnaffected newborn |
| spellingShingle | Sun Hee Lee Yong Hee Hong Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test Korean Journal of Pediatrics Neonatal screening 3-Methylcrotonyl CoA carboxylase Asymptomatic disease Mother Unaffected newborn |
| title | Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test |
| title_full | Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test |
| title_fullStr | Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test |
| title_full_unstemmed | Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test |
| title_short | Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test |
| title_sort | asymptomatic maternal 3 methylcrotonylglycinuria detected by her unaffected baby s neonatal screening test |
| topic | Neonatal screening 3-Methylcrotonyl CoA carboxylase Asymptomatic disease Mother Unaffected newborn |
| url | http://kjp.or.kr/upload/pdf/kjped-57-329.pdf |
| work_keys_str_mv | AT sunheelee asymptomaticmaternal3methylcrotonylglycinuriadetectedbyherunaffectedbabysneonatalscreeningtest AT yongheehong asymptomaticmaternal3methylcrotonylglycinuriadetectedbyherunaffectedbabysneonatalscreeningtest |