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Metabolic Conditions

What Are Metabolic Conditions?

Our bodies have the ability to process chemical reactions that are essential in in order to sustain life.  For example, food is broken down so that it can be used for energy. A metabolic condition occurs If these chemical processes are not working properly. Because there are hundreds of types of metabolic disorders, treatments vary and can range from dietary changes to liver transplants.

Newborn screening will be performed on your baby prior to leaving the hospital, or within 5 days after a home birth. Newborn screening can identify an abnormal metabolic result. There are many different types of metabolic disorders.

Organic Acidemias  

  • 3-Hydroxy-3-methylglutaric aciduria (HMG)
  • 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)
  • 3-Methylglutaconic acidemia (3-MGA)
  • Beta-ketothiolase deficiency
  • Glutaric acidemia, type I (GA type I)
  • Isobutrylglycinuria (IBG)
  • Isovaleric acidemia (IVA)
  • Malonic aciduria (MAL)
  • Methylmalonic acidemia (MUT or methylmalonyl-CoA mutase)
  • Methylmalonic acidemia with cobalamin disorders (CblA & CblB)
  • Methylmalonic academia with homocystinuria (CblC & CblD)
  • Propionic acidemia
  • 2-Methyl-3-hydroxybutyric aciduria (2M3HBA)

Amino Acid Disorders

  • Argininosuccinic Aciduria
  • Biopterin Cofactor Defects
  • Citrullinemia, type I
  • Citrullienemia, type II (Citron Deficiency)
  • Hypermethioninenemia
  • Hyperphenylalaninemia (H-Phe)
  • Maple syrup urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Tyrosinemia, type I
  • Tyrosinemia, type II
  • Tyrosinemia, type III

Fatty Acid Oxidation Disorders

  • 2,4-Dienoyl-CoA Reductase Deficiency
  • Carnitine-acylcarnitine translocase deficiency (CACT)
  • Carnitine palmitoyltransferase deficiency I (CPT IA)
  • Carnitine palmitoyltransferase deficiency II (CPT II)
  • Carnitine uptake defect (CUD)
  • Glutaric acidemia type II (GA type II)
  • *Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Medium/short chain L-3- hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Trifunctional Protein Deficiency
  • Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
  • Medium-chain ketoacyl-CoA thiolase deficiency (MCAT)

Lysosomal Storage Disorders

  • Krabbe
  • Pompe
  • MPS-I (Hurler Syndrome)

Other Genetic Disorders

  • Galactosemia: Classic Galactosemia (G/G)
  • Galactosemia D/G variant
  • Other galactosemia variants

What Does a Positive Result on the Newborn Screening Mean?

Newborn screening can identify an abnormal metabolic result. If the result is abnormal, further testing will be arranged for confirmation.  It is important that the additional testing is performed in a timely manner in order to ensure that the baby receives proper treatment. Early treatment of these conditions can make all the difference in the long-term health outcomes for each baby.

Information for Providers

It is the responsibility of the physician or midwife, whoever oversees the birth, to educate the family about the importance of each of the three (3) screens, and ensure the family is referred to have the screens performed. In the case that the family wishes to refuse one, two, or all three of the screens, it is the responsibility of the physician or midwife to have the parents complete and sign a Religious Waiver and enter this as an exception within your MSR (upload the completed Religious Waiver within the exception when prompted). Midwives, doulas, and other birth attendants are required by the state of Indiana to ensure newborn screening occurs and is reported to IDOH GNBS for each infant delivered. This means every midwife must be set up to submit Monthly Summary Reports (MSRs) in INSTEP.

For more information about MSRs, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at

If you need help with newborn screening, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at

Information for Families

Newborn screening consists of Heel Stick / Bloodspot Screening. Before every baby goes home from the nursery, he or she has a small amount of blood taken from his or her heel. This is called the heel stick. The blood is collected on the newborn screening card and referred to as the dried blood spot (DBS) sample. The DBS sample that is collected is used to screen for over 50 rare genetic conditions. If anything, concerning is found, the Newborn Screening Laboratory contacts the baby’s doctor.

Additional Metabolic Condition Resources:

Baby’s First Test:

National Organization of Rare Diseases: category/14/metabolic-disorders

Mayo Clinic:

Page last revised on 02/02/2022 by DWard