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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| Main Authors: | , |
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| Format: | Book |
| Published: |
Korean Pediatric Society,
2014-07-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |