What's New in NBS?

Sickle Cell Awareness Month

September is Sickle Cell Awareness Month. The Texas Newborn Screening Program began screening for sickle cell disease in 1983. See our trusted physician colleague, Dr. Titilope Fasipe's connection to sickle cell disease in an article posted on the Today Show website.

New Disorders Added to Newborn Screening Panel

Texas Newborn Screening added four new diseases four new disorders to the Newborn Screening Panel. The diseases are Krabbe Disease, Pompe Disease, and Mucopolysaccharidosis Types 1 and 2. We will start testing in early August 2025.The Newborn Screening Program created a New Disorder Toolkit It has resources for physicians and clinical providers.

If you have questions about this implementation, please reach out to newborn@dshs.texas.gov.

New Disorder Clinical Toolkit

Newborn screening included resources to educate physicians and clinical providers. We also included resources to help providers educate families about lysosomal diseases and what to expect if their newborn is diagnosed with one of the diseases. 

Krabbe Disease is an inherited genetic condition. The disorder affects myelin, which leads to a decline in nervous system function. The enzyme galactosylceramidase (GALC) usually breaks down galactolipids, but in Krabbe Disease the GALC enzyme has poor function so galactolipids build up in the cell. This gradually decreases myelin function. The process takes place in the lysosome of the cell. This is why Krabbe Disease is considered a Lysosomal Disease.

Mucopolysaccharidosis Type 1, or MPS I, is a genetic condition and occurs when glycosaminoglycans (GAGs) build up in the cell. Typically, an enzyme called iduronate 2-sulfatase (I2S) breaks down GAGs in the lysosome, making MPS I a lysosomal disorder. When GAGs build up, it can impact heart and respiratory, muscle, the central nervous system and skeletal systems. Hurler Syndrome is a version of this disorder.

Mucopolysaccharidosis Type 2, or MPS II, is an X-linked inherited genetic condition and is also known as Hunter syndrome. It occurs when glycosaminoglycans (GAGs) build up in the cell. Typically, an enzyme called iduronate-2-sulfatase (I2S) breaks down GAGs. When GAGs build up in the tissues, it can impact heart and respiratory muscle, the central nervous system, and skeletal systems.

Pompe Disease is a metabolic muscle disorder that interferes with processing and storage of complex sugars called glycogen. The buildup of glycogen in muscle cells causes the muscle tissues to break down. Symptoms can show up in any part of the body with muscle like skeletal muscle and heart muscle. Typically, this process happens in the lysosome of the cell. This is why Pompe Disease is considered a Lysosomal Disease.

Provider Resources:

Parent information and support:

Newborn Screening for Critical Congenital Heart Disease in Texas

Since 2014, babies in Texas have been able to get life-saving screening for Critical Congenital Heart Diseases. These diseases can be catastrophic if not caught in time. Most of the diseases are due to defects in how a baby’s heart is formed in utero and affect how well a baby can get oxygen from their lungs to the rest of the body. Learn more about CCHD including viewing the CCHD reporting form and frequently asked questions. The CCHD toolkit provides educational information on screening for CCHD.