Absent detection through newborn screening, many conditions, like inborn errors of metabolism, do not present until a time period after birth, with some conditions not being diagnosed until even years later. By way of definition, inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy and which are usually caused by defects in specific proteins, or enzymes, that aid in the break down, or metabolizing, of different foods. Some infants don't present symptoms of an inborn error of metabolism until the baby experiences his/her first feeding fast, going off food perhaps as a result of a cold virus or other minor ailment. The change in metabolism, caused by the fast, initiates the manifestation of the inborn error of metabolism. Thus, early detection through newborn screening is paramount, often allowing the opportunity for intervention, which can lessen or even eliminate the effects of the disorder. As an example, some inborn errors of metabolism can result in mental retardation to child who was otherwise born with no cognitive delays. If these metabolic errors are detected at birth, through screening of the small blood sample taken from a baby's heel, the child, and his or her family, can be saved from potentially life-altering consequences.
Newborn screening for impairments like hearing loss can also be highly beneficial as early detection can lead to intervention with far reaching effects. Undetected hearing loss can greatly alter a child's ability to move through other developmental stages like the advancement of speech and language skills.
EP has long championed the expansion, adoption, and development of universal newborn screening and provides ongoing updates for our readers.
Prescription Drug Approved by the FDA for PKU
Newborn screening saw its genesis in the 1960s with the findings of Dr. Robert Guthrie, an American bacteriologist and physician, who first used dried blood spotting samples in newborns to test for phenylketronuria (PKU), a genetic disorder.
For the 13,000 people in the U.S. who are living with the lifelong, genetic disorder called phenylketonuria, or PKU, managing the condition on a daily basis can be daunting. People with PKU are unable to metabolize an essential amino acid, called Phe, which is found in most foods that contain protein--like nuts, whole grains, meat, dairy, eggs, and some vegetables and fruit. If these foods are consumed, toxic levels of Phe build up in the blood stream and can be poisonous to the brain. If left untreated, people with PKU face severe neurological complications, including in some cases, severe mental retardation. The condition has historically been managed by restricting protein from a PKU patient's diet and supplementing artificial, specially-made foods to make up the protein deficit in the body, which can be unpalatable and expensive.
PKU is a condition every newborn is tested for at birth and up until December of 2007, there were no treatment options for this condition other than diet manipulation. Last year, the FDA approved the first and only prescription drug, KUVAN[TM] that may help some patients control the toxic levels of Phe in the blood and is to be used in conjunction with a Phe-restricted diet. For some, this represents a breakthrough therapy that may help keep levels low and under control, preventing the neurological complications associated with PKU. Kuvan is a pharmaceutical formulation of BH4, the natural cofactor for the PAH enzyme. Kuvan interacts with and stimulates the activity of the residual PAH enzyme to metabolize Phe to tyrosine, thus preventing the accumulation of toxic levels of Phe in the brain. In clinical studies, Kuvan has been shown to be well-tolerated, safe, and effective.
In 2008, the PKU community created the first and only National PKU Alliance (NPKUA). For more information visit www.npkua.org.
Newborn Hearing Screening
Hearing screening, conducted before a newborn leaves the hospital after birth, is becoming a much more common practice, according to the American Speech-Language Hearing Association's (ASHA) Web site. …