An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening


KOR D. , Mungan N. O. , Yilmaz B. S. , Oktem M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, ss.669-671, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0302
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.669-671

Özet

Background: 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessively inherited disease of leucine catabolism. It is the most commonly observed organic acidemia where tandem mass spectrometry can be performed in newborn screening. The clinical phenotypes may differ from neurological involvement in newborns to asymptomatic adults. Diagnosis is made by increased 3-hydroxyisovaleric acid in blood and 3-methylcrotonylglycine in urine.