Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan

Abstract

Background Metabolic disorders are heterogeneous group of genetic disorders that are responsible for significant neonatal and infant morbidity and mortality worldwide. In developing countries like Pakistan where infant mortality is high current population based studies are unable to gauge contribution of metabolic disorders in causing mortality and morbidity. It is essential to address this gap by a review of available scattered Pakistani data related to metabolic disorders specifically congenital hypothyroidism and inborn error of metabolism to calculate probable burden of these disorders. Main body Unfortunately currently in Pakistan newborn screening which identifies these illnesses at birth as a preventive strategy are not available. For current review data was collected through a systematic search of published articles (including data related to screening in certain subgroups of patients admitted to pediatric/neonatal intensive care units, patients with developmental delay/mental retardation). Conclusion The primary aim of this review was to get an estimate of the disease burden in the Pakistani population as true prevalence of Congenital Hypothyroidism and Inborn Errors of Metabolism in Pakistan is not available. This systematic review will help us to identify the rough idea about the scale of problem in Pakistan.

Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for

“…Studies have determined that vomiting, poor feeding, lethargy, coma, progressive encephalopathy, anemia, hyperammonemia, metabolic acidosis, and respiratory alkalosis are significantly higher in those diagnosed with inherited metabolic disorders. 4,10,11,15,16 All of these features were found to be consistently higher in Group I in the present study. Previous studies have reported seizures and severe hypotonia to be the most specific clinical findings for IMDs.…”

“…Following the symptom‐free interval, symptoms such as vomiting and coma begin within a few hours to a week 28 . However, IMDs can be diagnosed through expanded newborn screening tests, even in the asymptomatic periods that play a crucial role in the early diagnosis of IMDs and early treatment of IMDs, and which are essential in reducing the mortality rate 4,15 . In our IMD‐diagnosed patients, the median age at the date of consultation was 6 days for those with organic academia, and 17 days for urea‐cycle disorders, this delay being due to the extended follow up at local hospitals.…”

Serological Characteristics, Etiological Analysis, and Treatment Prognosis of Children with Congenital Hypothyroidism

“…A related survey [ 5 ] showed that if children with CH are detected within 2 months of the disease and given effective treatment, more than 80% of them can reach the level of normal children of the same age in terms of mental development, and the probability of poor prognosis increases as the time of disease detection and treatment increases, which shows that early diagnosis and treatment can largely reduce the irreversible impairment of growth and mental development of children with the disease. However, half of the children behave normally in the neonatal period, and only a few show some nonspecific symptoms, but the diagnosis is easily delayed by clinical manifestations; therefore, early diagnosis must rely on laboratory auxiliary examination to avoid serious sequelae such as growth retardation and mental retardation [ 6 , 7 ]. Newborn disease screening was introduced in China in the 1980s; through early screening and diagnosis, children can receive relevant treatment as early as possible, and regular follow-up treatment can be carried out, which can effectively improve the prognosis of children with CH [ 8 ].…”

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

“…Presently, newborn screening for MPS in not available in Pakistan, in fact, Pakistan lacks a national program for newborn screening due to the lack of a robust infrastructure for health care delivery. Access to screening is primarily available on a user pays basis at a local level from private laboratories within Pakistan and abroad for specific conditions [ 33 ].…”