| A Case of 2-Methylbutyryl-CoA Dehydrogenase Deficiency |
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Moon Souk Lee1, Ho Jin Park1, In Kyu Lee2, Kyuchul Choeh3, Hye-Ran Yoon4 |
1Department of Pediatrics, School of Medicine, Eulji University, Seoul, Korea
2Department of Pediatrics, School of Medicine, SoonChunHyang University, Seoul, Korea
3Urii Children's Clinic, Daejeon, Korea
4Metabolic Disease Detection Laboratory, Seoul Medical Science Institute, Seoul, Korea |
| 2-Methylbutyryl-CoA Dehydrogenase 결핍 1례 |
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이문숙1, 박호진1, 이인규2, 최규철3, 윤혜란4 |
1을지의과대학교 소아과학교실
2순천향대학교 의과대학 소아과학교실
3우리i소아과
4서울의과학연구소(SCL) 유전대사질환팀 |
Correspondence:
Kyuchul Choeh, Email: choeh@urii.cc
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| Abstract |
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We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no significant family history and spontaneous abortion. He was admitted at NICU under ventilator care due to prematurity, respiratory difficulty, and decreased generalized muscle tone. During the first week of hospitalization, he presented with disseminated intravascular coagulation and sepsis. A grade IV intraventricular hemorrhage on brain sonography was observed on the 7th day after birth with seizure. The clinical course of aggravation and recovery was repeated for one month. In laboratory tests, blood C5-acylcarnitines(isovaleryl/ methylbutyrylcarnitine) and urine 2-methylbutyrylglycine(2-MBG) were markedly elevated; butyrylglycine and isobutyrylglycine were also detected in small amounts in the urine. SBCAD(short branched-chain acyl-CoA dehydrogenase) enzyme activity was undetectable in cultured skin fibroblasts and Western blot showed no detectable immuno-reactive protein. Molecular analysis of the 2-MBCD gene revealed a polymorphism in the leader peptide region(38G>A; Arg13Lys) and homozygous for a non-coding polymorphism 639T>C. This is the first such case in Korea. This disorder is known to be relatively common in one other oriental ethnic group, the Hmong. The baby has been fed on a maple syrup urine disease(MSUD)-similar diet program, and is still alive and is 26-months-old now. However, he developed significant neurologic complications including communicating hydrocephalus, cerebral palsy, and blindness. Presumably the prematurity and its complications may also attribute to his severe neurologic problems. However, the clinical course was particularly severe, a finding in contrast with the observation from several asymptomatic Hmong cases. The clinical course of 2-MBCDase deficiency could be very variable and careful monitoring and follow up should be considered. |
| Key Words:
2-methylbutyryl-CoA dehydrogenase, 2-methylbutyrylglycinuria |
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