Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh

Abstract

Phenylketonuria (PKU) is a correctable inborn error of metabolism which causes lethal intellectual delay and neurobehavioral anomalies. A screening package, especially for early recognition can support to regulate the PKU process of most patients. Newborn screening program in any country focuses at the earliest detection of inheritance deficiency disorders in order to avoid the most severe repercussion by appropriate medication. This screening program needs a concomitant diagnosis and involves additional clinical research. Strategies from developed countries recommend that new-born screening should be done as soon as possible after birth before hospital/clinic discharge because if detected later, it conveys to significantly increase in disability as well as morbidity. Although exact protocol differs among different countries, testing procedures for PKU should be followed universally recognized in the developed world. Unfortunately, new-born screening program in Bangladesh is in lying-in room or possibly in pilot study in particular hospital, because the health-care system is classically targeted mortality (like childbirth complications) and transmittable morbidities (such as COVID-19) but not inborn frailties. Although policies and management of childbirth complications have been successfully lowered infant and mother mortality rates, the number of disabled babies increased tremendously. The study aims to investigate the current status of new-born screening (NBS) program of PKU in the Rajshahi Division Bangladesh, and focus on future plans to manage with life-long treatment. The primary challenges such as financial support for newborn screening, publicity, should be identified and implemented for national PKU-NBS policy as a role model of Bangladesh for developing countries.

Recent Advances in Phenylketonuria: A Review

“…The pathogenic variant c 60 + 5G > T was found in 26 patients, and brain damage was observed in two patients homozygous for this variant. This study observed that the general genotype/phenotype concordance was 83.8% when compared with identical genotypes reported in the BIOPKUdb [ 20 ].…”

“…In many cases, breast milk is used in combination with therapeutic formulas. Early initiation of treatment requires the implementation of a rapid neonatal screening programme and adequate follow-up and follow-up testing materials [ 20 ]. Sometimes, primary care providers can communicate openly with the baby's family to access the necessary specialized care.…”

“…Al Bari [ 20 ] stressed the importance of initiating PKU treatment early to minimize the harmful effects of Phe accumulation in the body. The need to exclude this amino acid from the diet or follow a phenylalanine-restricted diet was mentioned.…”

“…Al Bari et al [ 20 ] discussed various aspects related to the treatment of PKU. They highlighted the importance of assessing the necessary amount of Phe in each child's diet and how this is achieved by consuming measured amounts of specialized PKU formula, which contains all the amino acids necessary for growth except Phe.…”

“…This also highlights the importance of being aware of dietary supplements that may contain aspartame, as this can increase Phe levels and the economic burden of treating PKU, especially the costs of therapeutic foods and supplements. Therefore, it is necessary to implement government subsidies to cover these costs and provide social support to patients [ 20 ].…”