Newborn screening in Indonesia: Focusing on development of screening for treatable inborn errors of metabolism
Damayanti Rusli Sjarif and Ina S Timan
Dept of Child Health, Dept of Clinical Pathology
Faculty of Medicine Universitas Indonesia National Referral Hospital Dr Ciptomangunkusumo,
Human Genetics Reseaxh Cluster IMERI Universitas Indonesia
Indonesia is the biggest archipelogoes country in the world, consist of about 17 000 islands, consists of 34 provinces. Newborn screening in Indonesia is begin since 2000 with congenital hypothyroid (CHT) as the only item until now, so far the laboratorium appointed are National Referral Hospital Dr Ciptomangunkusumo Jakarta and Dr Hasan Sadikin Hospital Bandung. All the samples as dried blood spots samples (DBS) from all over Indonesia were sent to these two laboratories. Treatable inborn errors of metabolisms are not yet included since the treatment infrastructures for the positive screened patients is unavailable yet. Since 2001, Division Pediatric Nutrition and Metabolic Diseases of the Dept. Pediatrics National Refferal Hopsital Dr Ciptomangunkusumo dan Faculty of medicine University Indonesia is developing the infra structures such as human resources, diagnostic laboratories and treatment facilities. The infrastructures is established in 2015.
To do the pilot study of prevalence PKU and MSUD from DBS paper
The study was performed using samples from DBS for neonatal screening for CHT, since the informed consent is mentioned newborn screening not specifisically CHT, so legally and ethically it could be performed. The positive result will be confirmed through recall system of newborn screening. Samples were analyzed using Labsystem Flourometric method kits for MSUD and PKU and also amino acid profiles with LCMSMS Waters Xevo.
With the Flourometric method for MSUD and PKU 3582 samples were tested for PKU & 436 for MSUD and no positive result were observed. The controls were obtained as DBS from existing PKU patients, the result was positive accordingly. With the LCMSMS aminoacid profiles showed no abnormal results.
More samples should be analyzed to get a proportion of treatable congenital amino acid abnormality.
Keywords: inborn errors of metabolisms, amino acid
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