ACNBS Approves Testing for Six Disorders PDF Print E-mail
Tuesday, 03 July 2012 09:34


In a move toward true free health care, the Advisory Committee on Newborn Screening (ACNBS) has approved the inclusion of Maple Syrup Urine Disease (MSUD) in the current newborn screening panel of disorders, raising the number of disorders in the panel from five to six.

In Resolution No. 2012-001, the Committee allowed the offering of the additional test to all newborns at no additional cost.

MSUD, the most common inborn errors of metabolism in the Philippines, joins the list of the five disorders in the newborn screening panel: congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, G6PD deficiency, and phenylketonuria.

MSUD is a genetic metabolic disorder resulting from the defective activity of the enzyme branched chain alpha-keto-acid dehydrogenase (BCKAD) complex. The accumulation of the branched chain amino acids is toxic to the brain and can lead to death.

The clinical presentation of classic MSUD includes the following: maple syrup odor, irritability and poor feeding, signs of deepening encephalopathy, and, ultimately, coma and central respiratory failure. The first signs of MSUD are non-specific and may mimic those of neonatal sepsis or even neonatal tetanus.

Treatment is mainly dietary in nature, including the removal of sources of essential amino acids like leucine, isoleucine, or valine.

Since 1992, there have been 101 cases diagnosed in the Philippines even without newborn screening. Out of the 101 diagnosed, only 26 are living. Low-level clinical suspicion among health practitioners and the non-inclusion of the disorder in the newborn screening panel cause the high mortality for patients with MSUD in the country.

With the addition of MSUD in the current panel of diseases, neonatal illnesses arousing from the disorder will be better diagnosed and managed early to prevent irreversible complications.

The full implementation of the ACNBS resolution follows this schedule: NSC-NIH, July; NSC-CL, August; NSC-Visayas, October; and NSC-Mindanao, December.



Department Memorandum on Inclusion of MSUD in the NBS Panel of Disorders