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Screening Tests Detect Metabolic Disorders in Newborns

Timely Detection Aids Treatment

New York (Jun 25, 2009)

Animation of genetic strand

New state-mandated screening tests for newborns and the availability of specialized medical centers are improving the timely detection and treatment of metabolic disorders. One in every 3,000 infants is born with an inborn error of metabolism – a genetic defect that interferes with the baby's ability to process substances like carbohydrates, proteins and fats. Until recently, tests to detect many of these uncommon, disabling, and sometimes fatal disorders were rarely used. "If the child died, the cause would be listed as unknown or Sudden Infant Death Syndrome (SIDS). If the child survived and was not treated for the disorder, he or she would experience a range of symptoms and medical problems throughout their lives such as delays in development, seizures, growth problems, and autistic behavior," said Wendy K. Chung, MD, PhD, Director of Clinical Genetics at NewYork-Presbyterian Morgan Stanley Children's Hospital and the Herbert Irving Assistant Professor of Pediatrics in Medicine at Columbia University College of Physicians and Surgeons.

The Biochemical Genetics Program at NewYork-Presbyterian Morgan Stanley Children's Hospital – one of only a few specialized programs in New York State – offers diagnostic and management services for children and adults with confirmed or suspected inborn errors of metabolism. "Early and accurate diagnosis and detection is an essential first step for appropriate management and treatment of patients with these defects, giving them the opportunity to build healthy lives, improve their quality of life, and minimize the burden of their disease," said Dr. Chung.

Inborn Errors of Metabolism

Inborn errors of metabolism, also known as congenital metabolic diseases or metabolic disorders, are usually due to defects of single genes that code for enzymes that break down and build chemicals in the body. In most of the disorders, problems arise due to the accumulation of chemicals that are toxic or interfere with normal function, or to a deficiency in essential chemicals.

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders, including:

  • Amino acid metabolism – phenylketonuria and tyrosinemia
  • Carbohydrate metabolism – galactosemia and hereditary fructose intolerance
  • Fatty acid oxidation – medium-chain acyl-CoA, dehydrogenase deficiency (MCAD), and carnitine palmitoyl transferase-II (CPT-II)
  • Glycogen storage diseases – Pompe disease, McArdle disease, Von Gierke disease, and Cori disease
  • Lysosomal storage disorders – Gaucher disease, Fabry disease and Mucopolysaccharidosis
  • Mitochondrial disorders – MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome and ERRF (myoclonic epilepsy associated with ragged red fibers) syndrome
  • Neurotransmitter disorders
  • Organic acidurias – propionic acidemia and methylmalonic acidemia
  • Peroxisomal biogenesis disorders
  • Urea cycle defects – ornithine transcarbamylase

Importance of Screening

The earliest screening for a congenital metabolic disease, phenylketonuria (PKU), was pioneered in the late 1960s, and involves using blood samples on filter paper obtained by pricking a newborn baby's heel on the second day of life. This PKU test is still in use today. Congenital hypothyroidism was the second disease widely tested in the 1970s. The development of tandem mass spectrometry screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases. Additional tests have been added to many screening programs over the last decade. Today newborn screening has been adopted by most countries around the world.

Multidisciplinary Approach to Diagnosis and Treatment

The Biochemical Genetics Program provides treatment specific to a patient's metabolic condition. Internationally recognized for her work in the field of lysosomal storage disorders, Maryam Banikazemi, MD, a biochemical geneticist and Assistant Professor of Clinical Pediatrics in the Division of Clinical Genetics, Columbia University College of Physicians and Surgeons, focuses on inborn errors of metabolism. The Biochemical Genetics Program team of physicians and healthcare professionals specializing in these inherited disorders also includes a metabolic nurse, registered dietitian, social worker and genetic counselor. Other specialists called upon as needed include gastroenterologists, cardiologists, neurologists, orthopedic surgeons, ophthalmologists, pulmonologists and transplant surgeons.

Treatment may include dietary management with a metabolic nutritionist, enzyme replacement therapy, cofactor supplementation and, in advanced cases, transplantation for bone marrow, liver, kidney or heart.

"Our program offers enrollment in cutting-edge clinical trials and research studies for many of these rare disorders," said Dr. Chung. "Reproductive planning is also available, ensuring patients with metabolic disorders, or parents of a child with a disorder, that they will have healthy children.

"We also see adults with mysterious ailments, liver failure, hypoglycemia, even symptoms like persistent carpal tunnel syndrome can signal a metabolic disorder," added Dr. Chung, who notes that adult patients commonly are misdiagnosed and treated for other conditions.

Faculty Contributing to this Article:

Wendy K. Chung, MD, PhD, Director of Clinical Genetics at NewYork-Presbyterian Morgan Stanley Children's Hospital and the Herbert Irving Assistant Professor of Pediatrics in Medicine at Columbia University College of Physicians and Surgeons

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