PARENTS

BabySafe Inborn Errors of Metabolism (IEM).

BabySafe IEM screens your newborn for Inborn Errors of Metabolism (IEM). IEM are genetic diseases caused by lacking of certain enzyme or protein, which is essential for metabolic reactions in our body.

PEACE OF MIND

Why should my baby
be screened?

WHAT CAUSES IEM?

Genetically
inherited

Newborns inherit defective genes from the parents who may be usually healthy but are actually carriers of the abnormal genes.

X-linked or autosomal recessive genes are both used to transmit all IEMs. Two faulty genes were passed down from one parent to the affected child. Being carriers of the damaged gene, the parents are often in good health. Autosomal recessive refers to the mode of inheritance. There is a 25% chance that the couple may have more children with the same illness in the future.

Standard of Care

Newborn screening has been adopted as a national program in many countries worldwide. It is an integral part of assessing health and well-being of every infant born.

SIMPLE AND EASY

How is BabySafe IEM
screening done?

A few drops of blood will be taken by pricking the baby’s heel and sent to laboratory for testing. This is typically done before the baby leaves the hospital, usually at 1 or 2 days of age.

Blood sample should be taken after the first 24 hours of life. Ideally your baby should have at least one feed before the sample is collected. If your baby is discharged early, it is recommended to take a sample within 1 or 2 weeks.

SERVICES

Which disorders are screened?

BabySafe tests for over 40 metabolic disorders such as Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD) to name a few. Metabolism is the process that converts food into energy that our body uses to move, think, and grow. Most metabolic problems happen when certain enzymes are missing or not working as they should. We also provide testing for hormone problems such as Congenital Adrenal Hyperplasia (CAH) or haemoglobin problems like Sickle Cell Disease.

Amino Acid
Disorders

  • Phenylketonuria (PKU)
  • Benign Hyperphenylalaninemia (H-PHE)
  • Defects of Biopterin Cofactor Biosynthesis (BIOPT BS)
  • Maple Syrup Urine Disease (MSUD)
  • Citrullinemia Type I (ASA Synthetase)
  • Arginosuccinate Lyase Deficiency (ASA Lyase)
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Transient Tyrosinemia of the Newborn (TTN)
  • Tyrosinemia (TYR) Type I*, Type II and Type III
  • Argininemia (ARG)

Organic Acid
Disorders

  • Isovaleric Acidemia (IVA)
  • Methylmalonyl-CoA Mutase Deficiency (MUT/MMA)
    ‐ Methylmalonic Acidemia (Cobalamin Disorders): Cbl A, B
    ‐ Methylmalonic Acidemia with Homocystinuria: Cbl C, D
    ‐ Maternal Vitamin B12 Deficiency
  • Propionic Acidemia (PA)
  • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
  • 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency (HMG)
    ∙ Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2VGB/SBCAD)
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
  • 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGA)
    – Glutaric Acidemia Type | (GA-I)
    – Malonic Aciduria (MA)
  • Multiple-CoA Carboxylase Deficiency (MCD)

Fatty Acid Oxidation Disorders

  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  • 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  • Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Short Chain Hydroxyacyl CoA Dehydrogenase Deficiency (SCHAD)
  • Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA-II)
  • Trifunctional Protein Deficiency (TFP)
  • Carnitine / Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Palmitoy! Transferase Deficiency Type | (CPT-I)*
  • Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)

Disorders Screened by other technologies:

  • Galactosemia
  • Congenital Adrenal Hyperplasia
  • Biotinidase Deficiency
  • G6PD Deficiency
  • Congenital Hypothyroidism
  • Cystic Fibrosis(Not valid after 3 months of age)
  • Sickle Cell Disease and non-sickle cell hemoglobinopathies including thalassemia

FAST TURNAROUND TIME

When are the
results ready?

Results of newborn screening are ready within 2-3 working days after sample reaches our laboratory. Consult your doctor on your next visit.

UNDERSTANDING THE RESULTS

What does the result mean?

If your baby’s results are “within normal limits”, it indicates your baby is not at risk for any of the disorders screened. However, this would be just for the tests you have consented. Do note that this is just a screening test which offers best chance of identifying the disorders early and does not necessarily preclude a potential positive condition.

If the report indicates a problem, it does not necessarily mean that your baby has a disorder. Further tests might be needed. Your baby needs to be brought back to doctor for further advice. Synapse shall provide advisory support to you and your doctor for treatment and follow up actions.

If the report indicates a problem, it does not necessarily mean that your baby has a disorder. Further tests might be needed. Your baby needs to be brought back to doctor for further advice. Synapse shall provide advisory support to you and your doctor for treatment and follow up actions.If a diagnosis is confirmed, doctor might refer your baby to a metabolic specialist for more testing and treatment. When treatment is needed, it is important to start it as soon as possible. Treatment may include special formula, diet restrictions, supplements, medicines and close monitoring.

FIND OUT MORE

Support for
Parents

As part of our commitment to help parents to further understand the diseases, we provide genetic counselling services by experienced genetic counsellors. Parents seeking help for behavioural and social outcomes of children diagnosed with inherited metabolic disorders can readily access our counsellors at a reasonable rate.

If you would like to know more about our services, please reach out to us:

Contact Us

FAQs

Frequently Asked Questions

Only few drops of blood will be collected from your newborn’s heel, blotted ona special filter paper for testing. Ask your healthcare professional for more information and collection of specimen. Synapse shall work with your healthcare professional to get your newborn tested.

Ideally the best time to do the test is between two days (24 to 48 hours) after birth, preferably after baby had one feed. While we recommend BabySafe IEM for newborns, testing can also be done on older child.

 

It’s possible. Because IEM can be asymptomatic and most parents are usually healthy but are actually carriers of the abnormal genes.

It indicates your newborn is not at risk for any of the disorders screened. However, this would be just for the tests you have consented. Please be informed that this is just a screening test which offers best chance of identifying the disorders early and does not necessarily preclude a potential positive condition.

It does not necessarily mean that your newborn has a disorder. Further tests might be needed. Newborn must be brought back to doctor for further advice.

Synapse shall provide advisory support to you and your doctor for treatment and follow up actions.