local treatment centers for maple syrup urine disease

These genes encode for some of the proteins involved in the mitochondrial multienzyme complex branched-chain -ketoacid dehydrogenase (BCKD). The disease is inherited as an autosomal recessive disorder, but where this would normally imply that it is caused by the mutation of a single gene, MSUD can arise from mutations in several genes.

The disease has an incidence in the United States of ~1/200,000. A buildup of -ketoacids during amino acid metabolism can be dangerous to a newborn infant. In fact, the isoleucyl ketoacid gives the urine its distinctive odor and the disease its name.īranched-chain amino acids. Something is wrong.įirst characterized in 1954 by John Menkes, the pediatrician who later described Menkes disease (see Modern Drug Discovery, Aug 2001, p 80), maple syrup urine disease (MSUD) is due to a disruption in the metabolism of the branched-chain amino acids (BCAAs)leucine, isoleucine, and valineand the resulting buildup of -ketoacids. And the odor that you first put down to that new baby smell has taken on the tang of maple syrup. Likewise, the baby that once kicked imaginary soccer goals now lies quietly in her bassinet.

At first, you were happy that the feeding cycle was longer than the typical four hours, but the baby just does not seem hungry. In a few days, though, things start to change. Its a girl. You quickly scan to see that the baby has all the requisite fingers and toes, and look to see whose nose hers looks like.

The Department of Health must publish an annual report online of each hospital's compliance with the new requirementsįor all babies requiring further diagnostic testing, primary care providers are required to report to Newborn Screening the date they notified the parent/guardian.∼ongratulations, says the nurse as he hands you the wriggling bundle.

The initial screen (or signed refusal) must be delivered to the State Laboratory within 72 hours of collection (excluding Sundays and Thanksgiving day).The initial screen (or signed refusal) must be collected no later than 48 hours following birth.All babies born in Washington must be screened - not just babies born in hospitals (parents may still refuse based on religious beliefs).The Newborn Screening law ( RCW 70.83.020) was last amended during the 2014 legislative session. Newborn Screening Statute ( Chapter 70.83 RCW) revised to mandate screening for all births (including out-of-hospital births), modify required screening and transit timeframes, and publish annual compliance report.Īdded glycogen storage disorder type II (Pompe) and mucopolysaccharidosis type I Newborn Screening Statute revised to mandate screening for all hospital births and authorized the State Board of Health to adopt rules to carry out intent of statute ( Chapter 246-650 WAC) and add screening conditions.Īdded sickle cell diseases & hemoglobinopathies.Īdded biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease, and medium-chain acyl-CoA dehydrogengenase deficiency.Īdded isovaleric acidemia, glutaric acidemia type I, methylmalonic acidemia, propionic acidemia, long-chain L-3-OH acyl-CoA dehydrogenase deficiency, trifunctional protein deficiency, very long-chain acyl-CoA dehydrogenase deficiency, citrullinemia type I, argininosuccinic acidemia, carnitine uptake defect, multiple carboxylase deficiency, beta-ketothiolase deficiency, 3-hydroxy-3-methglutaric aciduria, tyrosinemia type I. Newborn Screening Statute (RCW) created to promote screening of infants. Voluntary screening of phenylketonuria (PKU). History of Newborn Screening in Washington State 1963 The costs of this service are recovered through billing the recipient's insurance, Medicaid, or in a few cases, the recipient. We do this to assure reliable and consistent access to these unique, essential products. The Newborn Screening Program also distributes specialized metabolic treatment products (i.e., PKU formula) that are central to preventing profound damage caused by some of the conditions on the newborn screening panel.

The Office of Newborn Screening also provides information and training to parents and health care providers about newborn screening. This work is supported entirely by a one-time fee for each baby screened. From this work, approximately 200 infants with one of the disorders on the screening panel are identified each year and receive treatment early in life. Each year our laboratory performs nearly 12 million tests on more than 172,000 specimens from about 85,000 newborns.

Local treatment centers for maple syrup urine disease