Newborn Screening for Early Diagnosis of Inborn Errors of Metabolism

The Newborn Screening Test

Screening newborns for health problems (congenital disorders) is an established worldwide public health practice. The newborn screening test is performed to detect rare, but serious health problems, often before there is any sign that the problem exists. Early diagnosis and appropriate treatment can greatly reduce and often prevent the risk of mental retardation, as well as often prevent, the effects of the problem for the rest of the child‘s life.

A blood-spot sample is collected either by a nurse in the hospital where the baby was born or parents with a doctor’s request can bring children to Al-Jawhara Centre. To collect the blood, the baby’s heel is pricked, and a small piece of special filter paper is soaked with four small spots of blood, and then allowed to dry. Using advanced technology known as ‘Tandem Mass Spectrometry’, over 49 disorders that could be in 1 out of every 300 babies are detected and reported within 2 days.

We immediately contact the concerned doctors if there is any suggestion of Inborn Errors of Metabolism and refer the child to metabolic specialist pediatricians. A repeat specimen may be required because of a poor sample or for a slightly elevated result.

Inborn errors of metabolism that can be detected in newborn screening include:

These are a group of inborn errors of amino acids metabolism (PHENYLKETONURIA, MAPLE SYRUP URINE DISEASE, TYROSINEMIA, UREA CYCLE DISORDERS and HYPERHOMOCYSTEINEMIA).  If children are late diagnosed and untreated, high levels of amino acids and their by-products will cause a significant brain damage. Treatment by a special diet after diagnosis started soon after birth allows children to develop normally.

These include organic academia (ISOVALERIC, PROPIONIC, GLUTARIC and METHYMALANOIC ACIDEMIAS) and fatty acid oxidation disorders (SCAD, MCAD, LCAD, and VLCAD). Newborns with fatty acid oxidation disorders cannot use their stored fat to provide energy during a time of stress, causing the body to use all of its blood sugar instead. This results in low blood sugar levels that can be fatal if not treated. Children with a fatty acid oxidation disorders are generally well unless they have a viral infection (cold or flu) or go for longer than usual between meals, when they may develop a severe problem. Treatment for this group of disorders usually involves a special diet and avoiding prolonged periods of fasting.

If the thyroid gland is not able to produce an adequate amount of thyroid hormone, it is mostly due to the thyroid gland formation (thyroid dysgenesis). If this condition is not diagnosed early after several months, children may have a delay in development and growth. Early detection by newborn screening and treatment with thyroid hormone allow these children to grow and develop normally.

This inherited problem mostly affects the lungs (sticky mucus) and gut (digestion of food). Children with cystic fibrosis are prone to serious chest infections, and have problems digesting and absorbing food, causing serious health issues. The newborn screening test for cystic fibrosis detects 96% of all babies with this disorder. Finding the problem early has been shown to significantly improve the life of children suffering from cystic fibrosis.

Babies with galactosemia cannot break down galactose in the milk. In the body, lactose (one of the main sugars in milk) is normally broken down to galactose and glucose. High levels of galactose can cause major health problems such as cataracts and liver damage. Without treatment, on rare occasions, it can be fatal. A special diet can prevent most of these health problems. Classical galactosemia present in the first few days of life may be fatal without treatment. Signs include poor feeding, vomiting, jaundice and, sometimes, lethargy and/or bleeding. Neonatal E. coli sepsis can occur and is often fatal. Treatment is withdrawal of milk and, if symptomatic, emergency measures.

In this disorder, adrenal glands do not function normally. Ambiguous genitalia in females may appear to be male with non-palpable testes. Infants with congenital adrenal hyperplasia are at risk for life-threatening adrenal crises, shock, and death in males and females. Newborn with congenital adrenal hyperplasia will have growth retardation.

In this disorder, newborns are not able to metabolize a vitamin called ‘biotin’.  The neonate is usually asymptomatic but episodic hypoglycaemia, lethargy, hypotonia, and mild developmental delay can occur at any time from the neonatal period through childhood. Untreated biotinidase deficiency leads to developmental delay, seizures, alopecia, and hearing deficits. After diagnosis through newborn screening, biotin treatment is available and highly effective.


Newborn Screening laboratory at Al-Jawhara Centre is committed to maintaining the highest level and quality of service. Our Newborn Screening laboratory is part of worldwide Quality Control Programme operated by Center of Disease Control (CDC) and Prevention based in the U.S. The quality assurance programme reports provided by CDC for Al-Jawhara Centre would be available for all doctors, hospitals, and laboratories.