Rare Disease Report

Newborn Screening

JANUARY 07, 2015

Dr. George Diaz, associate professor of Genetics and Genomic Sciences at Mount Sinai in New York, NY explains newborn screening in New York.

In New York State, the following conditons are tested in newborn screening:

Endocrine Disorders

Congenital adrenal hyperplasia
Congenital hypothyroidism


Sickle cell disease
Sickle cell trait

Infectious Disease

HIV (Human Immunodeficiency Virus)

Inborn Errors of Metabolism - Amino Acid Disorders

Branched-chain ketonuria

Inborn Errors of Metabolism - Fatty Acid Oxidation Disorders

Carnitine-acylcarnitine translocase deficiency
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency -
Carnitine uptake defect
2,4-Dienoyl-CoA reductase deficiency
Long-chain hydroxyacyl-CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
Medium-chain ketoacyl-CoA thiolase deficiency
Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Multiple acyl-CoA dehydrogenase deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency

Inborn Errors of Metabolism - Organic Acid Disorders

Cobalamin A,B cofactor deficiency
Cobalamin C,D cofactor deficiency
Glutaric acidemia type I
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Malonic acidemia
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylglutaconic acidemia
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
Methylmalonyl-CoA mutase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency
Multiple carboxylase deficiency
Propionic acidemia

Inborn Errors of Metabolism - Urea Cycle Disorders

Argininosuccinic acidemia

Other Genetic Conditions

Biotinidase deficiency
Cystic fibrosis
Krabbe disease
Pompe disease
Severe combined immunodeficiency (SCID)

To see what tests are conducted in your state, visit http://savebabies.org/screening.html

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