Classic phenylketonuria (PKU) is a condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. Individuals with PKU cannot break down the amino acid phenylalanine. If left untreated, PKU can cause …
Tyrosinemia, type I (TYR I) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. Individuals with this condition are unable to break down the amino acid tyrosine. …
Primary congenital hypothyroidism (CH) is a condition that affects the body’s thyroid gland, a small organ in the lower neck. Individuals with CH are unable to produce enough thyroid hormone, a chemical that is essential for healthy growth and development. …
Congenital adrenal hyperplasia (CAH) is a collection of inherited conditions that affect the body’s adrenal glands. In individuals with CAH, the adrenal glands are very large and are unable to produce certain chemicals, including cortisol, which helps protect the body …
Sickle cell disease (Hemoglobin SS Disease) is a group of inherited red blood cell disorders. In a healthy person, red blood cells are a round and they move through the body’s blood vessels carrying oxygen to all parts of the …
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 …
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 …
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 …