Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital

Gunduz M., Unal S., OKUR İ., Ayranci-Sucakli I., Guzel F., Koc N.

TURKISH JOURNAL OF PEDIATRICS, cilt.57, sa.1, ss.45-52, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 1
  • Basım Tarihi: 2015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.45-52
  • Anahtar Kelimeler: inborn errors of metabolism, neonate, outcome, TANDEM MASS-SPECTROMETRY, CLINICAL APPROACH, DIAGNOSIS, IMPACT, BIRTH, UNIT, TIME
  • Gazi Üniversitesi Adresli: Evet

Özet

We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory problems. Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), nonketotic hyperglycinemia (4) and tyrosinemia (2) were the most commonly diagnosed IEMs. The follow-up period was 2.5-43 months. Among the 33 neonates followed, 19 had normal development, 9 had developmental delays and 5 had cerebral palsy according to the Guide for Monitoring Child Development. Postnatal age on admission, Apgar score at 5 minutes, being transferred, peritoneal dialysis, cranial ultrasonographic findings, consanguinity and sibling history had significant effects on outcome.