Rare Inborn Errors of Metabolism
Inborn Errors of Metabolism (IEM) refer to a group of rare genetic disorders that requires lifetime medical and nutritional management. Most of these disorders are detected through the National Comprehensive Newborn Screening (NBS) Program, as enacted by Republic Act no. 9288 otherwise known as Newborn Screening Act of 2004. Though these conditions are rare, many Filipinos are now affected by these conditions.
Common IEMs in the Philippines
Maple Syrup Urine Disease (MSUD)
Phenylketonuria (PKU)
Glutaric Aciduria (GA) type 1
Tyrosinemia (TYR) Type 1
Isovaleric Acidemia (IVA)
Propionic Acidemia (PA)
Methylmalonic Acidemia (MMA)
Argininosuccinate Lyase Deficiency (ASLD)
Who takes care of IEM patients?
IEM patients are taken cared of and are managed by a group of health care providers and specialists located at the Institutes of Human Genetics (IHG) -National Institutes for Health, University of the Philippines Manila, Sections of Genetics, Department of Pediatrics - Philippine General Hospital and the various Newborn Screening Continuity Clinics in the various parts of the country.
How are they treated and managed?
Patients with IEM need a lifetime treatment. Diet therapy is the pillar in providing care to these patients. If left untreated, complications appear as poor growth and development, seizures, coma and even death. Monthly follow up consultations, special medical food/formula and low protein diet are strictly observed by the parents/caregivers to acquire optimal growth and well-being of the children.
Unfortunately, special medical food and supplements are not locally available and are very expensive. Majority of the medical needs of these patients rely on compassionate support of manufacturers through their corporate social responsibility (CSR) program.