A Case of Classical Galactosemia Presenting with  Indirect Hyperbilirubinemia and Long QT  Syndrome in the Early Neonatal Period

Nilgün KARADAĞ; Ayşegül ZENCİROĞLU; Dilek DİLLİ; Fatma Tuba EMİNOĞLU; Nilay HAKAN; Özben CEYLAN; Nurullah OKUMUŞ

doi:https://doi.org/10.5222/j.child.2016.036

Article Details

A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period

Authors:

Nilgün KARADAĞ | Ayşegül ZENCİROĞLU | Dilek DİLLİ | Fatma Tuba EMİNOĞLU | Nilay HAKAN | Özben CEYLAN | Nurullah OKUMUŞ

Publisher:

Istanbul University

Journal:

Journal of Child 2016 Vol.16 Issue 1, pp.36-38

Document Type:

Article

Publication Date:

1/2016

Document Language:

English

Document ID (Org No.):

2000738351

Frequency:

Tri-annual

eISSN:

1308-8491

DOI:

https://doi.org/10.5222/j.child.2016.036

Abstract:

 

Classical galactosemia is a life-threatening metabolic dis- ease caused by an autosomal recessive inherited defect of  galactose metabolism. Newborns with classical galac- tosemia are unable to metabolize galactose-1-phosphate.  Infants with galactosemia may develop symptoms such as  vomiting, liver problems, and jaundice in the first days of  life if they are fed with formula that contains lactose or  breast milk. In classical galactosemia generally direct  hyperbilirubinemia is the prominent feature. However the  disease may onset with indirect hyperbilirubinemia at its  early stage. The long QT syndrome is a disorder of myocar- dial repolarization characterized by a prolonged QT inter- val on the electrocardiogram. This syndrome is associated  with an increased risk of sudden infant death. We report  here a case of classical galactosemia presenting with  severe indirect hyperbilirubinemia and long QT syndrome  during early neonatal period.

 

Klasik galaktozemi galaktoz metabolizmasındaki otozo- mal resesif bir kalıtsal bir bozukluğun neden olduğu  yaşamı tehdit eden bir metabolik hastalıktır. Klasik galak- tozemili bebeklerde galaktoz-1-fosfat metabolize edile- mez. Galaktozemili bebeklerde yaşamın ilk günlerinde  laktoz içeren mama veya anne sütüyle beslenmeyi takiben  kusma, karaciğer sorunları ve sarılık gelişebilir. Klasik  galaktozemide genellikle direk hiperbilirübinemi ön  plandadır. Bununla birlikte hastalık erken dönemde  indirek hiperbilirübinemi ile de ortaya çıkabilir. Uzun QT  sendromu elektrokardiyogramda uzun QT mesafesi ile  karakterize bir myokard repolarizasyon bozukluğudur. Bu  sendromda ani bebek ölümü riski yüksektir. Bu makalede  erken neonatal dönemde ciddi indirek hiperbilirubinemi  ve uzun QT sendromu ile ortaya çıkan klasik galaktozemi- li bir yenidoğan vaka sunuldu.

Article Details

A Case of Classical Galactosemia Presenting with Indirect Hyperbilirubinemia and Long QT Syndrome in the Early Neonatal Period

Authors: Nilgün KARADAĞ | Ayşegül ZENCİROĞLU | Dilek DİLLİ | Fatma Tuba EMİNOĞLU | Nilay HAKAN | Özben CEYLAN | Nurullah OKUMUŞ

Publisher: Istanbul University

Journal: Journal of Child 2016 Vol.16 Issue 1, pp.36-38

Document Type: Article

Publication Date: 1/2016

Document Language: English

Document ID (Org No.): 2000738351

Frequency: Tri-annual

eISSN: 1308-8491

DOI: https://doi.org/10.5222/j.child.2016.036

Issues

Authors:

Nilgün KARADAĞ | Ayşegül ZENCİROĞLU | Dilek DİLLİ | Fatma Tuba EMİNOĞLU | Nilay HAKAN | Özben CEYLAN | Nurullah OKUMUŞ

Publisher:

Istanbul University

Journal:

Journal of Child 2016 Vol.16 Issue 1, pp.36-38

Document Type:

Article

Publication Date:

1/2016

Document Language:

English

Document ID (Org No.):

2000738351

Frequency:

Tri-annual

eISSN:

1308-8491

DOI:

https://doi.org/10.5222/j.child.2016.036