Biotinidase deficiency (BIOT) is an inherited genetic condition in which the body is unable to reuse and recycle the vitamin biotin. Since the body needs free biotin to break down fats, proteins, and carbohydrates effectively; individuals with BIOT are less …
Critical congenital heart disease (CCHD) represents a group of heart defects that cause serious, life-threatening symptoms requiring intervention within the first days or first year of life. However, CCHD is often treatable, and with early detection and treatment babies affected …
Cystic fibrosis (CF) is an inherited condition of the mucus glands. Mucus is a slippery substance the body secretes to cover and protect the lungs, digestive system, reproductive system, and other organs and tissues. CF causes the body to produce …
Classic galactosemia (GALT) is an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods containing milk. If a baby with GALT eats galactose, undigested sugars build up in the blood rather …
Hearing loss or varying hearing levels can affect a child’s ability to develop speech, language, and social skills. Individuals with hearing loss who receive early intervention treatment will likely reach their full potential. This condition can occur when any part …
Severe combined immunodeficiency (SCID) is an inherited immunodeficiency condition in which the body is unable to fight off serious and life-threatening infections. The body’s immune system is made up of different parts that work together to keep the body from …
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that …
Pompe is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because individuals with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex …
Spinal Muscular Atrophy (SMA) is a group of inherited conditions that affect the motor neurons of the spinal cord. Motor neurons are specialized nerve cells that control the muscles used for activities such as breathing, crawling, and walking. In people …
Mucopolysaccharidosis type I (MPS I) is an inherited condition that affects many different parts of the body. It is considered a lysosomal storage disorder because individuals with MPS I have lysosomes (the recycling center of each cell) that cannot break …