Next article Search Articles Instructions for authors  Access Statistics | Citation Manager  
CASE REPORT  

 Article Access Statistics
    Viewed186    
    Printed5    
    Emailed0    
    PDF Downloaded31    
    Comments [Add]    

Recommend this journal

“Idiopathic” pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency


1 Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
2 Department of Pediatric Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
3 Department of Cardiology, Pulmonary Vascular Diseases and Heart Failure Clinic, Cliniques Universitaires de Bruxelles-Hôpital Erasme, Brussels, Belgium
4 Department Pediatric Cardiology, Clinique de l'Espérance, Montegnée, Belgium
5 Center for Medical Genetics, UZ Brussel; Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium

Correspondence Address:
Dr. Paquay Stephanie
Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
Belgium
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/apc.APC_136_18

Rights and Permissions

Year : 2019  |  Volume : 12  |  Issue : 3  |  Page : 325-328

 

SEARCH
Similar in PUBMED
 Related articles

  Article in PDF (957 KB)
Email article
Print Article
Add to My List
NFU1 deficiency is a rare metabolic disorder affecting iron–sulfur cluster synthesis, an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. It is a little-known cause of pulmonary arterial hypertension (PAH), while PAH is a prominent feature of the disease. We herein report on a female infant diagnosed as having idiopathic PAH since 1 month of age, who did not respond to bosentan plus sildenafil. NFU1 deficiency was only suggested and confirmed at 10 months of age when she demonstrated neurological deterioration along with high glycine levels in body fluids. Unexplained PAH in early infancy should prompt clinicians to perform amino acid chromatography searching for high glycine levels. Early recognition will avoid further invasive procedures and enable appropriate genetic counseling to be offered. No effective treatment is currently able to prevent the fatal course of this metabolic condition.






[FULL TEXT] [PDF]*
 

 

 

 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
 Related articles
 
 
 Reader Comments
 Email Alert *
  *
 * Requires registration (Free)
 
 CASE REPORT
 




1 Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
2 Department of Pediatric Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
3 Department of Cardiology, Pulmonary Vascular Diseases and Heart Failure Clinic, Cliniques Universitaires de Bruxelles-Hôpital Erasme, Brussels, Belgium
4 Department Pediatric Cardiology, Clinique de l'Espérance, Montegnée, Belgium
5 Center for Medical Genetics, UZ Brussel; Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium

Correspondence Address:
Dr. Paquay Stephanie
Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
Belgium
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/apc.APC_136_18

Rights and Permissions

NFU1 deficiency is a rare metabolic disorder affecting iron–sulfur cluster synthesis, an essential pathway for lipoic acid-dependent enzymatic activities and mitochondrial respiratory chain complexes. It is a little-known cause of pulmonary arterial hypertension (PAH), while PAH is a prominent feature of the disease. We herein report on a female infant diagnosed as having idiopathic PAH since 1 month of age, who did not respond to bosentan plus sildenafil. NFU1 deficiency was only suggested and confirmed at 10 months of age when she demonstrated neurological deterioration along with high glycine levels in body fluids. Unexplained PAH in early infancy should prompt clinicians to perform amino acid chromatography searching for high glycine levels. Early recognition will avoid further invasive procedures and enable appropriate genetic counseling to be offered. No effective treatment is currently able to prevent the fatal course of this metabolic condition.






[FULL TEXT] [PDF]*


        
Print this article     Email this article