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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...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Pediatric Society
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127396/ https://www.ncbi.nlm.nih.gov/pubmed/25114694 http://dx.doi.org/10.3345/kjp.2014.57.7.329 |