- 作者：Georgianne L. Arnold ; Denise Salazar ; Julie A. Neidich ; Pim Suwannarat ; Brett H. Graham ; Uta Lichter-Konecki ; Annet M. Bosch ; Kristina Cusmano-Ozog ; Greg Enns ; Erica L. Wright ; Brendan C. Lanpher ; Natalie N. Owen ; Mark H. Lipson ; Roberto Cerone ; Paul Levy ; Lee-Jun C. Wong ; Antal Dezsofi
- 关键词：3-MCC ; 3-methylcrotonyl CoA carboxylase
- 刊名：Molecular Genetics and Metabolism
- 出版年：2012
- 出版时间：August, 2012
- 年：2012
- 卷：106
- 期：4
- 页码：439-441
- 全文大小：144 K
Introduction
3-Methyl CoA carboxylase (3-MCC) deficiency is an inborn error of metabolism in the catabolism of the amino acid leucine. Original reports suggested this disorder was associated with significant neurological and biochemical effects. However newborn screening has identified a higher than expected incidence of this disorder with apparent normal outcome in most cases.Method
A retrospective analysis of thirty-five cases of 3-MCC deficiency identified by newborn screening and diagnosed by enzyme or molecular analysis.
Results
There was a strong inverse correlation between initial C5OH level and residual enzyme activity. A few reports of hypoglycemia, ketosis, poor feeding/failure to thrive or fasting intolerance were reported, but there was no clear relationship between symptoms and residual enzyme activity. Developmental outcome included several children with mental retardation (including one with Down syndrome and one with schizencephaly) and two with Autism Spectrum disorders but there was no apparent relationship to residual enzyme activity. Free carnitine deficiency was relatively common.
Discussion
Although residual enzyme activity was clearly related to metabolite elevation, there was no apparent relationship with other measures of outcome. The number of reports of neurologic abnormalities or metabolic symptoms (poor feeding, hypoglycemia, fasting intolerance, etc.) is concerning, but the significance is unclear in this retrospective sample.