Puerto Rico | Newborn Screening

State Newborn Screening Panel

2-methyl-3-hydroxybutyric aciduria
2-methylbutyrylglycinuria
3-hydroxy-3-methyglutaric aciduria
3-methylcrotonyl-CoA carboxylase deficiency
3-methylglutaconic aciduria
Argininemia
Argininosuccinic aciduria
Benign hyperphenylalaninemia
Beta-ketothiolase deficiency
Biopterin defect in cofactor biosynthesis
Biopterin defect in cofactor regeneration
Biotinidase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase type II deficiency
Carnitine transport defect
Citrullinemia, type I
Citrullinemia, type II
Congenital adrenal hyperplasia
Critical congenital heart disease
Cystic fibrosis
Ethylmalonic encephalopathy
Galactosemia
Glutaric acidemia type I
Glutaric acidemia type II
Hemoglobinopathies
Holocarboxylase synthase deficiency
Homocystinuria
Hypermethioninemia
Isobutyrylglycinuria
Isovaleric acidemia
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Malonic acidemia
Maple syrup urine disease
Medium-chain acyl-CoA dehydrogenase deficiency
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
Methylmalonic acidemia CblA and CblB forms
Methylmalonic acidemia due to mutase deficiency
Methylmalonic acidemia with homocystinuria
Ornithine transcarbamylase deficiency
Phenylketonuria
Primary hypothyroidism
Propionic acidemia
Pyruvate carboxylase deficiency
S, βeta-thalassemia
S,C disease
Severe combined immunodeficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sickle cell anemia
T-cell related lymphocyte deficiencies
Trifunctional protein deficiency
Tyrosinemia I
Tyrosinemia II
Tyrosinemia, type III
Very long-chain acyl-CoA dehydrogenase deficiency

Contacts and Support

State Newborn Screening Program

Centro de Enfermedades Hereditarias y Programa de Cernimiento Neonatal de PR

Phone: 787-754-7410

Phone (alt.): 787-753-6340

FAX: 787-767-8597

Email: prnewbornscreeningprogram.rcm@upr.edu

Centro de Enfermedades Hereditarias y Programa de Cernimiento Neonatal de PR Website

Additional Resources

For a listing of general support, advocacy, and informational resources for Newborn Screening, visit the Resources page.

Date Last Reviewed:

September 2024