Newborn Screening Program
New Born Screening Fact Sheets Galactosemia Urea Cycle Disorders 5-Oxoprolinuria Tyrosinemia Sickle Cell Disease and Other Hemoglobinopathies Phenylketonuria Organic Acid Disorders MCAD and Other Fatty Acid Oxidation Disorders Maple Syrup Urine Disease Homocystinuria Galactosemia Congenital Hypothyroidism Boitinidase Deficiency Congenital Adrenal Hyperplasia Other Newborn Screening Fact Sheets

Lysosomal Storage Diseases

Information for Physicians and
Other Health Care Providers


Babies with lysosomal storage diseases cannot break down certain waste products. These waste products build up within the body and cause serious medical problems affecting the baby's health and development. Treatment depends on the specific disorder, and can include medications, enzyme replacement therapy, or may require stem cell or cord blood transplant very early in life. A baby with a lysosomal storage disease needs immediate and on-going medical care.

Newborn screening for the following lysosomal storage diseases is scheduled to begin in 2014:

Fabry Disease
Gaucher Disease
Krabbe Disease
Niemann Pick Disease
Pompe Disease

IDPH Online Home
IDPH Online Home

Illinois Department of Public Health
535 West Jefferson Street
Springfield, Illinois 62761
Phone 217-782-4977
Fax 217-782-3987
TTY 800-547-0466
Questions or Comments