HRSA Newborn Screening
HRSA’s Newborn Screening Information Center (NBSIC) provides clear and up-to-date information, materials, and resources about NBS in the United States
The Connecticut Newborn Screening Program
Organic Acid Disorders
A group of conditions called organic acid disorders (OADs) lead to an inability to process proteins and fats as energy from food. These proteins and fats are called organic acids. People with organic acid disorders are unable to digest them. This can cause organic acids to build up in the body and become toxic. This can cause vomiting, poor feeding, low blood sugar, sleepiness, seizures, and death. A special diet and medicine can help prevent these problems.
Core Conditions
3-Hydroxy-3-Methylglutaric Aciduria (HMG)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3 MCC)
Beta-Ketothiolase Deficiency (BKT)
Glutaric Acidemia, Type I (GA 1)
Multiple CoA Carboxylase Deficiency AKA Holocarboxylase Synthetase Deficiency (MCD)
Isovaleric Acidemia (IVA)
Methylmalonic Acidemia caused by cobalamin A or cobalamin B deficiencies (CBL A,B)
Methylmalonic Acidemia (methylmalonyl-CoA mutase) (MUT)
Propionic Acidemia (PPA)
Secondary Conditions
2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
2-Methylbutyrylglycinuria (2MBG)
3-Methylglutaconic Aciduria (3MGA)
Ethylmalonic Encephalopathy (EME)**
Isobutyryl-CoA dehydrogenase deficiency (IBG)
Malonic Acidemia (MAL)
Methylmalonic Acidemia with Homocystinuria (Cbl C,D,F)
Methylmalonic Acidemia due to Transcobalamin receptor defect (TCbl R)**
**The following are additional disorders that are screened for in Connecticut that are not on the RUSP. These conditions are a validated condition screening or legislatively mandated.