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Center for Congenital and Inherited Disorders

Expanded Panel Disorders

Over thirty additional disorders can be screened simultaneously from a single blood spot specimen using tandem mass spectrometry technology (MS/MS). The Iowa Neonatal Metabolic Screening Program began a pilot study in October 2001 for the disorders detectable by MS/MS. Almost all Iowa infants born after October 2001 have been screened for all currently known MS/MS detectable disorders unless a parental waiver was signed.

The disorders screened by tandem mass spectrometry fall into three categories of inheritable metabolic disorders: amino acid disorders, fatty acid oxidation disorders, and organic acid disorders. Individuals found to have one of the detectable disorders by newborn screening are treated by dietary management, monitoring, and/or amino acid and vitamin supplementation to prevent or significantly reduce clinical symptoms.

 

Amino Acid Disorders

Individuals with amino acid disorders have a deficiency in one of several pathways or cycles involved in protein metabolism. For amino acid disorders detectable by MS/MS, early treatment allows for the prevention of brain damage, mental retardation, coma, seizures, autistic-like disorders, and even death. The following is a list of the amino acid disorders currently detectable by the MS/MS screening.

 

Fatty Acid Oxidation Disorders

Individuals with fatty acid oxidation disorders are unable to break fats down into energy because of specific enzyme deficiencies essential in the fatty acid metabolic pathway. Normally, fat is broken down into energy by enzymes. This energy keeps the body running whenever it runs outs of its main source of energy, which is glucose. It is crucial that individuals with these disorders don't have prolonged fasting. Prolonged fasting can lead to life threatening hypoglycemia. It is estimated that 1 to 2/100 "SIDS" cases are the result of an undiagnosed fatty acid oxidation disorder. Newborn detection of the disorders and early treatment allows for prevention of the symptoms. Treatment includes avoidance of fasting, dietary management of fat intake and L-Carnitine supplementation for most of the disorders. Carnitine is needed to take toxic products out of the body so that an individual does not have irreversible damage.

Insurance companies typically cover L-Carnitine supplementation. In addition, the product's manufacturer, Sigma-Tau Pharmaceutical, offers a drug assistance program for qualifying families. Individuals with specific fatty acid oxidation disorders, such as 3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHAD), require Medium Chain Triglycerides (MCT) oil. Insurance companies typically cover this low-cost supplement. Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency or VLCAD patients require Portagen formula in infancy and as toddlers. This formula is estimated to cost $2000.00 a year. Families with a child with VLCAD would be eligible for assistance through our metabolic formula program. The following is a list of the fatty acid oxidation disorders currently detectable by the MS/MS screening:

 

Organic Acid Disorders

Organic acid disorders occur because of alterations in pathways of intermediary metabolism for amino acids, carbohydrates, and fatty acids. Babies with an organic acid disorder cannot remove certain waste products from their blood. Newborn detection of the disorders and early treatment allows for prevention of symptoms, which include neonatal hypotonia, respiratory acidemia, respiratory acidosis, muscle atrophy, seizures, developmental delays, coma, and death. Carnitine supplementation and dietary management is used to treat individuals with many of the disorders. Treatment of methylmalonic acidemia (MMA) may require medical food supplementation. Families with a child diagnosed neonatally with MMA would be eligible for assistance through our metabolic formula program. Following is a list of the organic acid disorders currently detectable by the MS/MS screening: