TY - JOUR
T1 - "Idiopathic" pulmonary arterial hypertension in early infancy
T2 - Excluding NFU1 deficiency
AU - Stéphanie, Paquay
AU - Catherine, Barrea
AU - Thierry, Sluysmans
AU - Jean-Luc, Vachiery
AU - Isabelle, Loeckx
AU - Sara, Seneca
AU - Christophe, Vô
AU - Marie-Cécile, Nassogne
PY - 2019/9/14
Y1 - 2019/9/14
N2 - 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.
AB - 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.
KW - Hyperglycinemia
KW - NFU1
KW - lipoic acid
KW - neurological regression
KW - pulmonary hypertension
UR - http://www.scopus.com/inward/record.url?scp=85071237366&partnerID=8YFLogxK
U2 - 10.4103/apc.APC_136_18
DO - 10.4103/apc.APC_136_18
M3 - Article
C2 - 31516295
VL - 12
SP - 325
EP - 328
JO - Annals of pediatric cardiology
JF - Annals of pediatric cardiology
SN - 0974-2069
IS - 3
ER -