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, vol.28, pp.669-671, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28
  • Publication Date: 2015
  • Doi Number: 10.1515/jpem-2014-0302
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.669-671
  • Keywords: carnitine, leucine, neonatal screening, 3-methylcrotonyl-CoA carboxylase deficiency
  • Çukurova University Affiliated: Yes

Abstract

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.