Advertisement

 

 

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Author Information (click to view)

Souza CAA, Alves MRA, Soares RDL, Kanufre VC, Rodrigues VM, Norton RC, Starling ALP, Aguiar MJB,


Souza CAA, Alves MRA, Soares RDL, Kanufre VC, Rodrigues VM, Norton RC, Starling ALP, Aguiar MJB, (click to view)

Souza CAA, Alves MRA, Soares RDL, Kanufre VC, Rodrigues VM, Norton RC, Starling ALP, Aguiar MJB,

Advertisement

Jornal de pediatria 2017 08 08() pii S0021-7557(16)30229-7
Abstract
OBJECTIVES
To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG).

METHODS
Descriptive study of patients with BH4 deficiency identified by the NSPMG.

RESULTS
The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I – autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each). Six patients were diagnosed due to clinical suspicion and four cases due to systematic screening in neonatal screening. After the start of the treatment, patients identified by neonatal screening had rapid improvement and improved neuropsychomotor development compared to those diagnosed by the medical history.

CONCLUSIONS
The prevalence of BH4 deficiencies in Minas Gerais was slightly higher than that found in the literature, but the frequency among hyperphenylalaninemias was similar. Although rare, they are severe diseases and, if left untreated, lead to developmental delays, abnormal movements, seizures, and premature death. Early treatment onset (starting before 5 months of age) showed good results in preventing intellectual disability, justifying the screening of these deficiencies in newborns with hyperphenylalaninemia identified at the neonatal screening programs for phenylketonuria.

Submit a Comment

Your email address will not be published. Required fields are marked *

three × 3 =

[ HIDE/SHOW ]