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NOTICE OF PILOT PROJECT FOR EXPANDED NEWBORN SCREENINGThe Michigan Department of Community Health initiated a pilot project on April 18, 2005 to expand the current dry blood spot screening panel of 11 disorders to include 27 additional fatty acid oxidation and organic acid disorders. The purpose of the project is to evaluate the feasibility of tandem mass spectrometry in detecting these disorders and to assure that there are follow-up and medical management systems in place for early diagnosis and treatment. We hope to eventually screen all Michigan newborns for these disorders in accordance with a March 8, 2005 federal recommendation that all states should consider adding these additional disorders to their current screening panel. The additional disorders are:
FATTY ACID OXIDATION DISORDERS
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD) Tri-functional protein deficiency (TFP) Carnitine uptake defect (CUD) Short chain acyl-CoA dehyrogenase deficiency (SCAD) Glutaric acidemia type II (GA2) Medium/short-chain L-3-OH acyl-CoA dehydogenase deficiency (M/SCHAD) Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT) Carnitine palmitoytransferase II deficiency (CPT II) Carnitine: acylcarnitine translocase deficiency (CACT) Carnitine palmitoyltransferase I deficiency (liver) (CPT IA) Dienoyl-CoA reductase deficiency (DE RED)
ORGANIC ACID DISORDERS
Isovaleric acidemia (IVA) Glutaric acidemia type 1 (GA1) 3-OH 3-CH3 glutaric aciduria (HMG) Multiple carboxylase deficiency (MCD) Methymalonic acidemia (mutase deficiency) (MUT) 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) Methylmalonic acidemia (Cbl A,B) Propionic acidemia (PROP) B-Ketothiolase deficiency (BKT) Methylmalonic acidemia (Cbl C,D) Malonic academia (MAL) Isobutyryl-CoA dehydrogenase deficiency (IBG) 2-methyl 3-hydroxy butyric aciduria (2M3HBA) 2-Methylbutyryl-CoA dehydrogenase deficiency (2MBG) 3-Methylglutaconic aciduria (3MGA)
Due to the specificity of tandem mass spectrometry screening, few false positives are anticipated during the pilot project. Therefore, if your office is notified by fax of a positive screen for a fatty acid oxidation or organic acid disorder, it is important that prompt action be taken in accordance with the action steps included in the fax notification. Follow-up referrals will be to the Children’s Hospital of Michigan Metabolic Clinic in Detroit (313-745-4513; toll free 1-866-442-4662).
If you have questions about the expanded screening pilot project, please telephone William Young, Ph.D., at (517) 335-8938 or e-mail at youngw@michigan.gov. 4/11/2005
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Sandy LaPrad
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